64 results on '"Koelker, Stefan"'
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2. Personalized metabolic whole-body models for newborns and infants predict growth and biomarkers of inherited metabolic diseases
3. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
4. Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders
5. Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease
6. Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN
7. ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae
8. Fat embolism syndrome in Duchenne muscular dystrophy: Report on a novel case and systematic literature review
9. Cerebral Organic Acid Disorders Cerebral organic acid disorders and Other Disorders of Lysine Catabolism
10. Cerebral Organic Acidurias
11. aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment
12. Identification of potential interferents of methylmalonic acid: A previously unrecognized pitfall in clinical diagnostics and newborn screening
13. Aminoazidopathien
14. Organoazidurien
15. Differenzialdiagnose und Notfallbehandlung von Intermediärstoffwechselkrankheiten
16. Health Outcomes of Infants with Vitamin B12 Deficiency Identified by Newborn Screening and Early Treated
17. Clinical spectrum and treatment outcome of 95 children with continuous spikes and waves during sleep (CSWS)
18. Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches
19. Personalised metabolic whole-body models for newborns and infants predict growth and biomarkers of inherited metabolic diseases
20. Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism
21. Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias
22. Function Tests
23. Work-Up of the Patient with Acute Neurological or Psychiatric Manifestations
24. Work-Up of the Patient with Hyperammonemia
25. Emergency Treatment of Inherited Metabolic Diseases
26. Approach to the Child Suspected of Having a Disorder of Fatty Acid Oxidation
27. Workup of the Patient with Lactic Acidemia: Mitochondrial Disease
28. Workup of the Patient with Metabolic Acidosis and Massive Ketosis
29. Metabolic Emergencies
30. Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants inSTXBP1
31. Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism
32. Guidelines and Follow-Up
33. Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium
34. Krankheiten und Störungen des Eiweißstoffwechsel
35. Differenzialdiagnose und Notfallbehandlung von Intermediärstoffwechselkrankheiten
36. Cerebral Organic Acidurias
37. Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1
38. Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism
39. Glutaric Aciduria Type II
40. Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy
41. The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood
42. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
43. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases
44. Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy
45. Issues with European guidelines for phenylketonuria
46. Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl–coenzyme A dehydrogenase gene
47. Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1
48. Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A
49. Iron Regulatory Proteins Secure Mitochondrial Iron Sufficiency and Function
50. The incidence of urea cycle disorders
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