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1. Sedierung von Kindern zum PET-CT bei kongenitalem Hyperinsulinismus

Author

Kork, F., Blankenstein, O., Mohnike, W., and Höhne, C.

Abstract

Zusammenfassung: Bei Kindern mit kongenitalem Hyperinsulinismus kann zur Evaluierung und zur Planung chirurgischer Therapieoptionen eine Positronen-Emissions-Tomographie mit 18F-markiertem L-DOPA erforderlich werden. Die Kinder sollten in stressfreier Situation untersucht werden, denn als Voraussetzung muss eine stabile Glucosestoffwechsellage durch i.v.-Glucosezufuhr herrschen. Das untersuchte Kind liegt über längere Zeit still, um optimale Ergebnisse zu erzielen. Dafür sollte eine Sedierung mit kontinuierlicher Propofolinfusion erfolgen und diese durch einen Anästhesisten betreut werden. Zusätzlich muss der Blutzucker regelmäßig kontrolliert und die Glucosezufuhr angepasst werden.

Published
2024
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3. Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe

Author

Nowotny, H., Neumann, U., Tardy-Guidollet, V., Ahmed, S.F., Baronio, F., Battelino, T., Bertherat, J., Blankenstein, O., Bonomi, M., Bouvattier, C., Perrière, A. Brac de la, Brucker, S., Cappa, M., Chanson, P., Claahsen-van der Grinten, H.L., Colao, A., Cools, M., Davies, J.H., Dörr, H.G., Fenske, W.K., Ghigo, E., Giordano, R., Gravholt, C.H., Huebner, A., Husebye, E.S., Igbokwe, R., Juul, A., Kiefer, F.W., Léger, J., Menassa, R., Meyer, G., Neocleous, V., Phylactou, L.A., Rohayem, J., Russo, G., Scaroni, C., Touraine, P., Unger, N., Vojtková, J., Yeste, D., Lajic, S., Reisch, N., Nowotny, H., Neumann, U., Tardy-Guidollet, V., Ahmed, S.F., Baronio, F., Battelino, T., Bertherat, J., Blankenstein, O., Bonomi, M., Bouvattier, C., Perrière, A. Brac de la, Brucker, S., Cappa, M., Chanson, P., Claahsen-van der Grinten, H.L., Colao, A., Cools, M., Davies, J.H., Dörr, H.G., Fenske, W.K., Ghigo, E., Giordano, R., Gravholt, C.H., Huebner, A., Husebye, E.S., Igbokwe, R., Juul, A., Kiefer, F.W., Léger, J., Menassa, R., Meyer, G., Neocleous, V., Phylactou, L.A., Rohayem, J., Russo, G., Scaroni, C., Touraine, P., Unger, N., Vojtková, J., Yeste, D., Lajic, S., and Reisch, N.

Abstract

Contains fulltext : 283126.pdf (Publisher’s version ) (Open Access), OBJECTIVE: To assess the current medical practice in Europe regarding prenatal dexamethasone (Pdex) treatment of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. DESIGN AND METHODS: A questionnaire was designed and distributed, including 17 questions collecting quantitative and qualitative data. Thirty-six medical centres from 14 European countries responded and 30 out of 36 centres were reference centres of the European Reference Network on Rare Endocrine Conditions, EndoERN. RESULTS: Pdex treatment is currently provided by 36% of the surveyed centres. The treatment is initiated by different specialties, that is paediatricians, endocrinologists, gynaecologists or geneticists. Regarding the starting point of Pdex, 23% stated to initiate therapy at 4-5 weeks postconception (wpc), 31% at 6 wpc and 46 % as early as pregnancy is confirmed and before 7 wpc at the latest. A dose of 20 µg/kg/day is used. Dose distribution among the centres varies from once to thrice daily. Prenatal diagnostics for treated cases are conducted in 72% of the responding centres. Cases treated per country and year vary between 0.5 and 8.25. Registries for long-term follow-up are only available at 46% of the centres that are using Pdex treatment. National registries are only available in Sweden and France. CONCLUSIONS: This study reveals a high international variability and discrepancy in the use of Pdex treatment across Europe. It highlights the importance of a European cooperation initiative for a joint international prospective trial to establish evidence-based guidelines on prenatal diagnostics, treatment and follow-up of pregnancies at risk for CAH.

Published
2022

5. Diagnose der Mukoviszidose (S2)

Author

NÄHRLICH, L., primary, STUHRMANN-SPANGENBERG, M., additional, BARBEN, J., additional, BARGON, J., additional, BLANKENSTEIN, O., additional, BREMER, W., additional, BRUNSMANN, F., additional, BUCHHOLZ, T., additional, ELLEMUNTER, H., additional, FUSCH, C., additional, GEMBRUCH, U., additional, HAMMERMANN, J., additional, JACOBEIT, J., additional, JUNG, A., additional, KEIM, V., additional, KOPP, I., additional, LOFF, S., additional, MAYR, S., additional, PFEIFFER-AULER, S., additional, ROSSI, R., additional, SITTER, H., additional, STERN, M., additional, STRASSBURG, C., additional, and DERICHS, N., additional

Published
2015
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6. International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: data from the I-CAH registry

Author

Bacila, I., Freeman, N., Daniel, E., Sandrk, M., Bryce, J., Ali, S.R., Abali, Z. Yavas, Atapattu, N., Bachega, T.A., Balsamo, A., Birkebæk, N., Blankenstein, O., Bonfig, W., Cools, M., Costa, E.C., Darendeliler, F., Einaudi, S., Elsedfy, H.H., Finken, M., Gevers, E., Claahsen-van der Grinten, H.L., Guran, T., Güven, A., Hannema, S.E., Higham, C.E., Iotova, V., Kamp, H.J. van de, Korbonits, M., Krone, R.E., Lichiardopol, C., Luczay, A., Mendonca, B.B., Milenkovic, T., Miranda, M.C., Mohnike, K., Neumann, U., Ortolano, R., Poyrazoglu, S., Thankamony, A., Tomlinson, J.W., Vieites, A., Vries, L. de, Ahmed, S.F., Ross, R.J.M., Krone, N.P., Bacila, I., Freeman, N., Daniel, E., Sandrk, M., Bryce, J., Ali, S.R., Abali, Z. Yavas, Atapattu, N., Bachega, T.A., Balsamo, A., Birkebæk, N., Blankenstein, O., Bonfig, W., Cools, M., Costa, E.C., Darendeliler, F., Einaudi, S., Elsedfy, H.H., Finken, M., Gevers, E., Claahsen-van der Grinten, H.L., Guran, T., Güven, A., Hannema, S.E., Higham, C.E., Iotova, V., Kamp, H.J. van de, Korbonits, M., Krone, R.E., Lichiardopol, C., Luczay, A., Mendonca, B.B., Milenkovic, T., Miranda, M.C., Mohnike, K., Neumann, U., Ortolano, R., Poyrazoglu, S., Thankamony, A., Tomlinson, J.W., Vieites, A., Vries, L. de, Ahmed, S.F., Ross, R.J.M., and Krone, N.P.

Abstract

Contains fulltext : 231533.pdf (Publisher’s version ) (Open Access), OBJECTIVE: Despite published guidelines no unified approach to hormone replacement in congenital adrenal hyperplasia (CAH) exists. We aimed to explore geographical and temporal variations in the treatment with glucocorticoids and mineralocorticoids in CAH. DESIGN: This retrospective multi-center study, including 31 centers (16 countries), analyzed data from the International-CAH Registry. METHODS: Data were collected from 461 patients aged 0-18 years with classic 21-hydroxylase deficiency (54.9% females) under follow-up between 1982 and 2018. Type, dose and timing of glucocorticoid and mineralocorticoid replacement were analyzed from 4174 patient visits. RESULTS: The most frequently used glucocorticoid was hydrocortisone (87.6%). Overall, there were significant differences between age groups with regards to daily hydrocortisone-equivalent dose for body surface, with the lowest dose (median with interquartile range) of 12.0 (10.0-14.5) mg/m2/day at age 1-8 years and the highest dose of 14.0 (11.6-17.4) mg/m2/day at age 12-18 years. Glucocorticoid doses decreased after 2010 in patients 0-8 years (P < 0.001) and remained unchanged in patients aged 8-18 years. Fludrocortisone was used in 92% of patients, with relative doses decreasing with age. A wide variation was observed among countries with regards to all aspects of steroid hormone replacement. CONCLUSIONS: Data from the I-CAH Registry suggests international variations in hormone replacement therapy, with a tendency to treatment with high doses in children.

Published
2021

15. European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism

Author

Léger J, Olivieri A, Donaldson M, Torresani T, Krude H, van Vliet G, Polak M, Butler G, Alexander P, Alvarez M, Blankenstein O, CASSIO, ALESSANDRA, Castanet M, Cesaretti G, Cheetham T, Chiesa A, Corbetta C, Craig ME, Foley TP, Grosse S, Kempers M, de Labriolle Vaylet C, LaFranchi S, Luton D, Minagawa M, Raghupathy P, Rapaport R, Rovet J, Rustama DS, Salerno M, Simon A, Szinnai G, Tajima T, van Trotsenburg P., Léger, Juliane, Olivieri, Antonella, Donaldson, Malcolm, Torresani, Toni, Krude, Heiko, van Vliet, Guy, Polak, Michel, Butler, Gary, Salerno, Mariacarolina, Léger J, Olivieri A, Donaldson M, Torresani T, Krude H, van Vliet G, Polak M, Butler G, Alexander P, Alvarez M, Blankenstein O, Cassio A, Castanet M, Cesaretti G, Cheetham T, Chiesa A, Corbetta C, Craig ME, Foley TP, Grosse S, Kempers M, de Labriolle-Vaylet C, LaFranchi S, Luton D, Minagawa M, Raghupathy P, Rapaport R, Rovet J, Rustama DS, Salerno M, Simon A, Szinnai G, Tajima T, van Trotsenburg P., and University of Zurich

Subjects
1303 Biochemistry, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Thyrotropin, 1308 Clinical Biochemistry, Biochemistry, Pediatrics, Severity of Illness Index, 0302 clinical medicine, Endocrinology, Epidemiology, Mass Screening, Early childhood, Grading (education), Societies, Medical, Congenital Hypothyroidism, Consensus Guidelines, Screening, Special Features, Congenital hypothyroidism, 1310 Endocrinology, 3. Good health, Europe, 2712 Endocrinology, Diabetes and Metabolism, medicine.medical_specialty, Thyroid Hormones, Consensus, Pediatric endocrinology, MEDLINE, 610 Medicine & health, 030209 endocrinology & metabolism, 2704 Biochemistry (medical), 03 medical and health sciences, Neonatal Screening, Patient Education as Topic, Internal medicine, 030225 pediatrics, Severity of illness, medicine, Congenital Hypothyroidism, Humans, 2735 Pediatrics, Perinatology and Child Health, Mass screening, Dose-Response Relationship, Drug, business.industry, Biochemistry (medical), Infant, Newborn, medicine.disease, Newborn, Thyroxine, 10036 Medical Clinic, Pediatrics, Perinatology and Child Health, business
Abstract

OBJECTIVE: The aim was to formulate practice guidelines for the diagnosis and management of congenital hypothyroidism (CH). EVIDENCE: A systematic literature search was conducted to identify key articles relating to the screening, diagnosis, and management of CH. The evidence-based guidelines were developed with the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) system, describing both the strength of recommendations and the quality of evidence. In the absence of sufficient evidence, conclusions were based on expert opinion. CONSENSUS PROCESS: Thirty-two participants drawn from the European Society for Paediatric Endocrinology and five other major scientific societies in the field of pediatric endocrinology were allocated to working groups with assigned topics and specific questions. Each group searched the literature, evaluated the evidence, and developed a draft document. These papers were debated and finalized by each group before presentation to the full assembly for further discussion and agreement. RECOMMENDATIONS: The recommendations include: worldwide neonatal screening, approaches to assess the cause (including genotyping) and the severity of the disorder, the immediate initiation of appropriate L-T4 supplementation and frequent monitoring to ensure dose adjustments to keep thyroid hormone levels in the target ranges, a trial of treatment in patients suspected of transient CH, regular assessments of developmental and neurosensory functions, consulting health professionals as appropriate, and education about CH. The harmonization of diagnosis, management, and routine health surveillance would not only optimize patient outcomes, but should also facilitate epidemiological studies of the disorder. Individuals with CH require monitoring throughout their lives, particularly during early childhood and pregnancy Objective: The aim was to formulate practice guidelines for the diagnosis and management of congenital hypothyroidism (CH). Evidence: A systematic literature search was conducted to identify key articles relating to the screening, diagnosis, andmanagementof CH. The evidence-based guidelines were developed with the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) system, describing both the strength of recommendations and the quality of evidence. In the absence of sufficient evidence, conclusions were based on expert opinion. Consensus Process: Thirty-two participants drawn from the European Society for Paediatric Endocrinology and five other major scientific societies in the field of pediatric endocrinology were allocated to working groups with assigned topics and specific questions. Each group searched the literature, evaluated the evidence, and developed a draft document. These papers were debated and finalized by each group before presentation to the full assembly for further discussion and agreement. Recommendations: The recommendations include: worldwide neonatal screening, approaches to assess the cause (including genotyping) and the severity of the disorder, the immediate initiation of appropriate L-T4 supplementation and frequent monitoring to ensure dose adjustments to keep thyroid hormone levels in the target ranges, a trial of treatment in patients suspected of transient CH, regular assessments of developmental and neurosensory functions, consulting health professionals as appropriate, and education about CH. The harmonization of diagnosis, management, and routine health surveillance would not only optimize patient outcomes, but should also facilitate epidemiological studies of the disorder. Individuals with CH require monitoring throughout their lives, particularly during early childhood and pregnancy.

Published
2014

16. S2-Konsensus-Leitlinie 'Diagnose der Mukoviszidose'

Author

Naehrlich, L, Stuhrmann-Spangenberg, M, Barben, J, Bargoni, J, Blankenstein, O, Bremern, W, Brunsmann, F, Ellemunter, H, Fusch, C, Gembruch, U, Hammermann, J, Jacobeit, J, Jung, A, and University of Zurich

Subjects
10036 Medical Clinic, 610 Medicine & health
Published
2013

17. Inter-laboratory comparison of IGF-I concentrations measured by an automated immunoassay: Results from a multicentre study across Europe

Author

Grimminger, P, primary, Frystyk, J, additional, Blankenstein, O, additional, Hauffa, BP, additional, Johansson, G, additional, Muller Kobold, AC, additional, Kratzsch, J, additional, Cavalier, E, additional, Piazza, A, additional, Wüster, C, additional, Monaghan, P, additional, Droste, M, additional, de Rijke, YB, additional, and Bidlingmaier, M, additional

Published
2015
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22. Evaluation of 18F- L-DOPA PET-CT for surgery in focal congenital hyperinsulinism

Author

Barthlen, W., Mau, H., Koch, M., Höhne, C., Blankenstein, O., Mohnike, W., Eberhard, T., Füchtner, F., Lorenz-Depiereux, B., and Mohnike, K.

Abstract

Context: In congenital hyperinsulinism (CHI), the identification and precise localization of a focal lesion is essential for successful surgery. Objective: Our objective was to evaluate the predictive value and accuracy of integrated [F-18] fluoro-L-DOPA ([F-18]FDOPA) positron emission tomography (PET)-computed tomography (CT) for the surgical therapy of CHI. Design: This was an observational study. Setting: The study was performed in the Department of Pediatric Surgery at a university hospital. Patients: From February 2005 to September 2007, 10 children with the clinical signs of CHI and an increased radiotracer uptake in a circumscribed area of the pancreas in the [F-18]FDOPA PET-CT were evaluated. Interventions: Guided by the [F-18]FDOPA PET-CT report, all children underwent partial pancreatic resection, in two cases twice. Main Outcome Measures: Correlation of the anatomical findings at surgery with the report of the [F-18] FDOPA PET-CT, and the results of surgery and clinical outcome were determined. Results: In nine children the intraoperative situation corresponded exactly to the description of the [F-18] FDOPA PET-CT. A limited resection of the pancreas was curative in eight cases at the first surgery, in one case at the second intervention. We observed no diabetes mellitus or exocrine insufficiency in the follow up so far. In one child, hypoglycemia persisted even after two partial resections of the pancreatic head. Histological analysis finally revealed an atypical intermediate form of CHI. Conclusions: The integrated [F-18]FDOPA PET-CT is accurate to localize the lesion in focal CHI and is a valuable tool to guide the surgeon in limited pancreatic resection.

Published
2008

23. 18F-DOPA Positron Emission Tomography for Preoperative Localization in Congenital Hyperinsulinism

Author

Mohnike, K., Blankenstein, O., Minn, H., Mohnike, W., Füchtner, F., and Otonovski, T.

Subjects
Positron emission tomography, Computer tomography, Congenital hyperinsulinism, L -DOPA, [ 18 F]-DOPA-PET/CT
Abstract

In recent years, considerable progress has been made in the biochemical, morphological and molecular genetic differentiation of congenital hyperinsulinism (CHI). Fluorine-18 L -3,4-dihydroxyphenylalanine positron emission tomography ( 18 F-DOPA-PET) has been introduced for differentiation between focal and diffuse CHI. The ability to take up L -DOPA and convert it into dopamine is correlated with the activity of the aromatic amino acid decarboxylase and increased in the hyperfunctional affected pancreatic area in comparison to normally functioning pancreas. The high sensitivity of this method allows the surgeon to perform a curative limited resection of a focus without the risk of long-term diabetes. The exact preoperative planning by 18 F-DOPA-PET/CT computer tomography allows laparoscopic operation in selected cases with the focus in the tail and limits necessity to open the pancreatic duct in cases with focus in the head. Patients with persistent CHI should be managed within a strong network of diagnostic, treatment, and research institutions.

Published
2008

25. Proposal for a standardized protocol for 18F-DOPA-PET (PET/CT) in Congenital Hyperinsulinism

Author

Christensen, Henrik Thybo, Mohnike, K., Blankenstein, O., De Lonhay, J., Hussain, K., Koopmans, K.P., Minn, H., Mohnike, W., Mutair, A., Otonkosi, T., Rahier, J., Ribeiro, M., Schoenle, E., and N.-Fékété, C.

Subjects
Diagnosis, Differential, Levodopa, Questionnaires, Fluorine Radioisotopes, Positron-Emission Tomography, Humans, Infant, Congenital Hyperinsulinism, Pancreas, Sensitivity and Specificity
Published
2006
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29. Transient pregnancy-induced Cushing's Syndrome with Aberrant Adrenal hCG receptor

Author

Plöckinger, U, primary, Tiling, N, additional, Blankenstein, O, additional, Weizsäcker, K von, additional, Allolio, B, additional, Kroiss, M, additional, Hauptmann, K, additional, Saeger, W, additional, Radke, C, additional, Steinmüller, T, additional, Rahman, N, additional, Chrusciel, M, additional, Doroszko, M, additional, Lacroix, A, additional, Huhtaniemi, I, additional, and Quinkler, M, additional

Published
2014
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31. Visualization of the focus in congenital hyperinsulinism by intraoperative sonography

Author

Rohden, L., Mohnike, K., Mau, H., Eberhard, T., Mohnike, W., Blankenstein, O., Empting, S., Koch, M., Fuechtner, F., Barthlen, W., Rohden, L., Mohnike, K., Mau, H., Eberhard, T., Mohnike, W., Blankenstein, O., Empting, S., Koch, M., Fuechtner, F., and Barthlen, W.

Abstract

In surgery for focal congenital hyperinsulinism (CHI), the identification and complete resection of the focus without collateral damage is of utmost importance. In a pilot study we applied intra-abdominal high-frequency sonography during surgery for focal CHI in 2 infants. The focus could be identified, its relation to the pancreatic and common bile duct could be shown, and the typical octopus-like tentacles could be demonstrated. In one case the resection was successful; in the other it was not. These preliminary results suggest that intraoperative sonography could be a valuable tool in the surgical therapy of focal CHI and warrants further evaluation in a clinical study.

Published
2011

32. Congenital hyperinsulinism: [18F]DOPA PET/CT scan of a focal lesion in the head of the pancreas

Author

Kapoor, R. R., Gilbert, C., Mohnike, K., Blankenstein, O., Füchtner, F., Hussain, K., Kapoor, R. R., Gilbert, C., Mohnike, K., Blankenstein, O., Füchtner, F., and Hussain, K.

Abstract

Congenital hyperinsulinism (CHI) is a cause of severe hypoglycaemia in the neonatal period.(1) The histological differentiation of CHI into focal and diffuse disease has radically changed the surgical management of patients with the disease. (2) Correct localisation and limited excision of the focal lesion results in complete cure of the patient. Recent advances in fluorine-18 L-3,4-dihydroxyphenylalanine ([18F]DOPA) positron emission tomography (PET) scanning are beginning to provide greater accuracy in preoperative differentiation of focal and diffuse disease and correct localisation of focal lesions.(3–5) The principle of this test is that, pancreatic islets take up L-3, 4-dihydroxyphenylalanine (L-DOPA), and convert it to dopamine by DOPA decarboxylase, present in the islet cells. However, the role of dopamine in pancreatic ß-cells remains unclear. A 3-day-old neonate presented with severe hyperinsulinaemic hypoglycaemia. He failed to respond to all forms of treatment and required further investigations to differentiate diffuse from focal disease. He underwent an integrated [18F]DOPA PET/CT scan. Figure 1 shows more than twofold uptake of [18F]DOPA in the head of the pancreas compared with the body and tail of the pancreas, proving focal disease.(4) A computed tomography (CT) scan combined with the PET scan colocalised the focal lesion in the head of the pancreas at the junction of the portal vein and superior vena cava (size 6.1 mm). At the time of surgery the focal lesion was found exactly where the PET/CT localisation suggested and was excised with complete resolution of the hyperinsulinism. [18F]DOPA PET/CT scanning is now the preferred method for differentiating diffuse and focal CHI. REFERENCES 1. Hussain K. Congenital hyperinsulinism. Semin Fetal Neonatal Med 2005;10:369–76. 2. Rahier J, Guiot Y, Sempoux C. Persistent hyperinsulinaemic hypoglycaemia of infancy: a heterogeneous syndrome unrelated to nesidioblasto

Published
2008

33. Zum aktuellen Stand der Kindervorsorgeprogramme

Author

Hock, S., additional, Berchner, Y., additional, Blankenstein, O., additional, Buschbaum, T., additional, Ellsäßer, G., additional, Heuermann, M., additional, Klein, R., additional, Kolbow, D., additional, Metzner, F., additional, Röhlich-Pause, K., additional, Thaiss, H., additional, Untze, P., additional, Zimmermann, E., additional, and Kieslich, M., additional

Published
2013
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34. Proposal for a standardized protocol for 18F-DOPA-PET (PET/CT) in congenital hyperinsulinism.

Author

UCL - MD/MNOP - Département de morphologie normale et pathologique, UCL - (SLuc) Service d'anatomie pathologique, Mohnike, K, Blankenstein, O, Christesen, H T, De Lonlay, J, Hussain, K, Koopmans, K P, Minn, H, Mohnike, W, Mutair, A, Otonkoski, T, Rahier, Jacques, Ribeiro, M, Schoenle, E, Fékété, C N, UCL - MD/MNOP - Département de morphologie normale et pathologique, UCL - (SLuc) Service d'anatomie pathologique, Mohnike, K, Blankenstein, O, Christesen, H T, De Lonlay, J, Hussain, K, Koopmans, K P, Minn, H, Mohnike, W, Mutair, A, Otonkoski, T, Rahier, Jacques, Ribeiro, M, Schoenle, E, and Fékété, C N

Published
2006

37. N17 - Diagnose der Mukoviszidose (S2)

Author

NÄHRLICH, L., STUHRMANN-SPANGENBERG, M., BARBEN, J., BARGON, J., BLANKENSTEIN, O., BREMER, W., BRUNSMANN, F., BUCHHOLZ, T., ELLEMUNTER, H., FUSCH, C., GEMBRUCH, U., HAMMERMANN, J., JACOBEIT, J., JUNG, A., KEIM, V., KOPP, I., LOFF, S., MAYR, S., PFEIFFER-AULER, S., ROSSI, R., SITTER, H., STERN, M., STRASSBURG, C., and DERICHS, N.

Published
2015
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38. Autorenverzeichnis

Author

Graul-Neumann, L., Horn, D., Hübner, C., Huppke, P., König, R., Majewski, F., Meinecke, P., Pankau, R., Rosenbaum, T., Schnabel, D., Schuelke, M., Spranger, J., Theile, U., Tinschert, S., Wilichowski, E., Wollmann, H.A., Zenker, M., Bartmann, P., Bassler, D., Bührer, C., Flemmer, A.W., Forster, J., Franz, A., Gonser, M., Gortner, L., Groneck, P., Hentschel, R., Herting, E., Hoyme, U.B., Hummler, H., Jandeck, C., Jorch, G., Korinthenberg, R., Liese, J., Maier, R.F., Martius, J., Merkenschlager, A., Poets, C.F., Pohlandt, F., Roll, C., Roos, R., Roth, B., Schneider, K.T.M., Speer, Ch., Stopfkuchen, H., Teichmann, A., Thomas, W., Vetter, K., von der Wense, A., Zielen, S., Assmann, B., Hoffmann, G.F., Kölker, S., Lindner, M., Mönch, E., Santer, R., Spiekerkötter, U., Zschocke, J., Bauer, K., Böhles, H.-J., Sinclair, Jack, Jauch, K.W., Jochum, F., Kauth, Thomas, Koletzko, B., Krawinkel, M., Krohn, K., Mihatsch, Walter, Moß, A., Mühlebach, S., Verwied-Jorky, S., Wabitsch, M., Zimmer, K.-P., Albers, N., L'Allemand, D., Binder, G., Brämswig, J.H., Dörr, H.G., Grüters-Kieslich, A., Hauffa, B.P., Heger, S., Hiort, O., Holl, R., Holterhus, P.M., Köhler, B., Korsch, Eckhard, Kratzsch, J., Krude, H., Mohnike, K., Neu, A., Pfäffle, R., Richter-Unruh, A., Riepe, F.G., Simic-Schleicher, G., Schönau, E., Sinnecker, G., Sippell, W., Willgerodt, H., Wölfle, J., Wudy, S.A., Aygören-Pürsün, E., Bas, M., Baumann, U., Biedermann, T., Blume, J., Buchholz, B., Dückers, G., Dunsch, D., Edelhäuser, M., Ehl, S., Feiterna-Sperling, C., Funk, M., Hartmann, K., Königs, C., Kreuz, W., Krudewig, J., Laws, H.-J., Linde, R., Martinez-Saguer, I., Maurer, M., Nadal, David, Niehues, T., Notheis, G., Ott, H., Schulze, I., Wedi, B., Wintergerst, U., Bürk, G., Foeldvari, I., Frosch, M., Girschick, H., Gerhold, K., Guellac, N., Haas, J.P., Häfner, R., Häuser, W., Heiligenhaus, A., Hospach, T., Horneff, G., Huppertz, H.-I., Illhardt, A., Jansson, A.F., Kallinich, T., Michels, H., Mönkemöller, K., Neudorf, U., Richter, M., Schnöbel-Müller, E., Thon, A., Zernikow, B., Behnisch, W., Cario, H., Dickerhoff, R., Eber, S., Führer, M., Kohne, E., Kulozik, A.E., Kunz, J., Muckenthaler, M., Eberl, W., Gaedicke, G., Muntean, W., Streif, W., Beck, J.D., Berthold, F., Bielack, S., Calaminus, G., Claviez, A., Creutzig, U., Dirksen, U., Dworzak, M., Göbel, U., Graf, N., Grießmeier, B., Henze, G., Hero, B., Jürgens, H., Kaiser, U., Klingebiel, T., Koscielniak, E., Kramm, C., Langer, T., Lawrenz, B., Lehrnbecher, T., Leiss, U., Mentzel, H.-J., Minkov, M., Peitz, J., Placzek, R., Reinhardt, D., Reiter, A., Rutkowski, S., Schmittenbecher, P., Schneider, D.T., Schreiber-Gollwitzer, B.M., Schrappe, M., Schroten, H., Schröder, H.M., Schuster, V., von Schweinitz, D., Sörensen, N., Tallen, G., Timmermann, B., Warmuth-Metz, M., Weckesser, M., Wessel, L., Wirth, T., Wolff, J.E.A., Wößmann, W., Zehnhoff-Dinnesen, A. am, Apitz, C., Arnold, R., Baumgartner, H., Bennink, G., Bertram, H., Blankenburg, M., Bönner, G., von der Breek, J., Breuer, J., Buchhorn, R., Bürsch, J., Cesnjevar, R., Dähnert, I., Deisenhofer, I., Diller, G.-P., Doenst, T., Dubowy, K.-O., Eicken, A., Ewert, P., Fink, C., Franke, J., Gebauer, R., Gorenflo, M., Grabitz, Haas, N.A., Häusler, H.-J., Hager, A., Hebebrand, J., Henschel, W., Hirt, M., Hoeper, M.M., Hörer, J., Hofbeck, M., Horke, A., Hraska, V., Hulpke-Wette, M., šek, J. Janou, Jux, C., Kändler, L., Kandolf, R., Kaulitz, R., Kienast, W., Klaassen, S., Knirsch, W., Kramer, H.H., Kreuder, J.G., Kriebel, T., Läer, S., Laser, K.T., Lê, T.-P., Lewin, M.A.G., Lindinger, A., Mackenzie, C.R., Mebus, S., van der Mei, S.H., Miera, O., Ovroutski, S., Paul, T., Photiadis, J., Pozza, R. Dalla, Rickers, C., Rosendahl, W., Ruschewski, W., Sachweh, J.S., Schäfers, H.-J., Scheewe, J., Schirmer, K.-R., Schlensak, C., Schlez, M., Schmaltz, A.A., Schmitt, K., Schneider, H., Schneider, M.B., Schranz, D., Schreiber, C., Schulze-Neick, I., Sieverding, L.F.J., Singer, H., Stieh, J., Sreeram, N., Thies, W.-R., Thul, J., Trauzeddel, R., Tschöpe, C., Uebing, A., Ulmer, H.E., Vogel, M., Vogt, M., Weil, J., Wessel, A., Will, J.C., Wühl, E., Ballmann, M., Barben, J., Bauer, C.P., Bend, J., Berdel, D., Blankenstein, O., Bremer, W., Brunsmann, F., Buchholz, T., Bufe, A., Derichs, N., Eber, E., Friedrichs, F., Frischer, T., Gembruch, U., Gieler, U., Götz, M., Haas, W.H., Hamelmann, E., Hammer, J., Hellermann, M., Jacobeit, J., Jung, A., Keim, V., Kitz, R., Kleinheinz, A., Koletzko, S., Kopp, I., Kopp, M., Lau, S., Lauener, R., Loff, Magdorf, K., Muche-Borowski, C., Müller, F.-M., Müsken, H., Naehrlich, L., Nicolai, T., Nüßlein, Th., Paditz, E., Palm, Frau B., Paul, K., Pfeiffer-Auler, S., Pfeiffer-Kascha, Frau D., Posselt, H.-G., Przybilla, B., Räwer, H.-C., Ratjen, F., Reese, I., Riedler, J., Rietschel, E., Rose, M., Rossi, R., Ruëff, F., Schäfer, T., Schmidt, S., Schmitt-Grohé, S., Schulze, J., Schuster, A., Seidenberg, J., Sitter, H., Smaczny, C., Spindler, T., Staab, D., Stern, M., Strassburg, C.P., Strömer, K., Stuhrmann-Spangenberg, M., Szczepanski, R., Tacke, A., Tiedgen, M., Urschitz, M.S., Vagts, J., Vogelberg, C., Wahn, U., Walker, A., Werfel, T., Wildhaber, J.H., Zach, M., Zimmermann, Th., Ballauff, A., Bannert, N., Böhn, I., Buderus, S., Bufler, P., Burdelski, M., Gerner, P., Grosse, K.-P., Henker, J., Henneke, P., Huber, W., Lang, T., Lentze, M.J., Melter, M., Müller, T., Pfister, E.-D., Rodeck, B., Schmidt-Choudhury, A., Skopnik, H., Wirth, S., Witt, H., Bachmann, H., Dötsch, J., Ehrich, J.H., Fuchshuber, Arno, Hoppe, B., Hoyer, P.F., Kemper, M.J., Michalk, D., Müller, D., Müller-Wiefel, D.E., Pohl, M., Tönshoff, B., Zerres, K., Bast, T., Baumeister, F.A.M., Berner, R., Bode, H., Christen, H.J., Collmann, H., Ebinger, F., Eiffert, H., Evers, S., Gold, R., Groß, S., Hanefeld, F., Heinen, F., Holthausen, H., Hübner, A., Jacobi, G., Karch, D., Kauschke, C., Kerkhoff, G., Kiese-Himmel, C., Klepper, J., Kohlschütter, A., Korn-Merker, E., Krägeloh-Mann, I., Kropp, P., Kurlemann, G., de Langen-Müller, U., Lenard, H.G., Michael, Th., von Moers, A., Felderhoff-Müser, U., Nau, R., Neubauer, B.A., Neuhäuser, G., Neumann, K., Noterdaeme, M., Pothmann, R., Rating, D., Reitter, B., Rickels, E., Ritz, A.M., Rosenkötter, H., Schmitt, B., Stephani, U., Stöver, B., Tibussek, D., Trollmann, R., Trommer, G., Tuxhorn, I., Wohlrab, G., Boergen, K.P., Brosch, S., Delb, W., Frank, R., Herrmann, B., von Hofacker, N., de Camargo, O. Kraus, Kries, R.v., Michaelis, R., Papousek, M., Schlack, H.G., Schriever, J., Skrodzki, K., Straßburg, H.-M., Thyen, U., Becker, K., Fels, T., Fitze, G., Grasshoff-Derr, S., Göbel, P., Illing, P., Lieber, J., Schmidt, A., Wessel, L.M., Berthold, L.D., Hahn, G., Hirsch, W., Moritz, J.D., Schröder, C., Schumacher, R., Stegmann, J., Steinborn, M., Tietze, R., Wunsch, R., Deppe, W., Hermann, T., Kiosz, D., Leidig, E., Mayer, H., Oepen, J., Stachow, R., Ahrens, F., Frey, G., Huttegger, I., Preil, M.-L., Schmittenbecher, P.P., Traupe, H., Eberhardt, O., Hasler, C., Krauspe, R., Meenen, N.M., Meurer, A., Rödl, R., Stücker, R., and Zilkens, C.

Published
2015
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44. Neugeborenenscreening

Author

Lüders, A., primary, Blankenstein, O., primary, Starke, I., primary, Stopsack, M., primary, Fingerhut, R., primary, Klein, J., primary, Lindner, M., primary, Müller, C., primary, Peter, M., primary, Rauterberg, E., primary, Stehn, M., primary, Schultis, W., primary, Fusch, C., primary, Schulze, A., primary, Ceglarek, U., primary, and Nennstiel-Ratzel, U., additional

Published
2009
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