147 results on '"Mütze, Ulrike"'
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2. Personalized metabolic whole-body models for newborns and infants predict growth and biomarkers of inherited metabolic diseases
3. Newborn screening for aromatic l-amino acid decarboxylase deficiency – Strategies, results, and implication for prevalence calculations
4. 7 Tage/w mit Trinkschwäche, Ikterus und ein Anruf: Vorbereitung auf die Facharztprüfung: Fall 87
5. Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias
6. Sudden neonatal death in individuals with medium-chain acyl-coenzyme A dehydrogenase deficiency: limit of newborn screening
7. Vitamin B12 Deficiency Newborn Screening.
8. Neurological outcome in long‐chain hydroxy fatty acid oxidation disorders
9. Health Outcomes of Infants with Vitamin B12 Deficiency Identified by Newborn Screening and Early Treated
10. Clinical spectrum and treatment outcome of 95 children with continuous spikes and waves during sleep (CSWS)
11. Newborn Screening for Vitamin B12 Deficiency in Germany—Strategies, Results, and Public Health Implications
12. Evaluation and optimization of newborn screening by structured long-term follow-up—using the example of inherited metabolic diseases
13. Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples
14. Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria
15. Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases—Data from the E-IMD consortium
16. Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.
17. Organic acidurias in adults: late complications and management
18. A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry
19. Machine Learning Methods Improve Specificity in Newborn Screening for Isovaleric Aciduria
20. Impact of the SARS‐CoV ‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium
21. Neonatal screening for isovaleric aciduria: Reducing the increasingly high false‐positive rate in Germany
22. Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening
23. Maternal Vitamin B12 Deficiency Detected by Newborn Screening—Evaluation of Causes and Characteristics
24. Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria
25. How longitudinal observational studies can guide screening strategy for rare diseases
26. Postauthorization safety study of betaine anhydrous
27. Impact of the -2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the consortium
28. Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy
29. Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening.
30. Neonatal screening for isovaleric aciduria: Reducing the increasingly high false‐positive rate in Germany.
31. Opportunities and challenges in machine learning‐based newborn screening—A systematic literature review
32. Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience
33. Maternal Vitamin B 12 Deficiency Detected by Newborn Screening—Evaluation of Causes and Characteristics.
34. Transition of young adults with phenylketonuria from pediatric to adult care
35. Opportunities and challenges in machine learning‐based newborn screening—A systematic literature review.
36. Real‐world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid‐free formulas in France and Germany: A retrospective observational study
37. Newborn screening and disease variants predict neurological outcome in isovaleric aciduria
38. Jean-Marie Saudubray, Matthias R. Baumgartner, John Walter (Eds.). Inborn metabolic diseases: diagnosis and treatment: 2016, 658 pp (ISBN 978-3-66249771-5)
39. Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening
40. Health Outcomes of Infants with Vitamin B12 Deficiency Identified by Newborn Screening and Early Treated.
41. Real‐world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid‐free formulas in France and Germany: A retrospective observational study.
42. Growth and Final Height Among Children With Phenylketonuria
43. Multigene panel next generation sequencing in a patient with cherry red macular spot: identification of two novelmutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings
44. Multigene panel next generation sequencing in a patient with cherry red macular spot
45. Delineating SPTAN1 associated phenotypes: From isolated epilepsy to encephalopathy with progressive brain atrophy
46. Ten years of specialized adult care for phenylketonuria – a single-centre experience
47. Multigene panel next generation sequencing in a patient with cherry red macular spot: identification of two novelmutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings
48. Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings
49. Jean-Marie Saudubray, Matthias R. Baumgartner, John Walter (Eds.). Inborn metabolic diseases: diagnosis and treatment
50. Ten years of specialized adult care for phenylketonuria: a single-centre experience
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