162 results on '"Grünewald, Stephanie"'
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2. Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study
3. Disorders of carbohydrate metabolism: a review of glycogen storage disorders
4. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases
5. Galactose epimerase deficiency: lessons from the GalNet registry
6. The Kidney in Methylmalonic Acidaemia
7. Emergency Diagnostic Procedures and Emergency Treatment
8. Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease
9. Metabolic Diseases
10. International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up
11. MaP NATURAL HISTORY STUDY: CLINICAL AND BIOMARKER FINDINGS IN PROPIONIC ACIDEMIA
12. Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency
13. Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia
14. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
15. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
16. Physical Abnormalities in Metabolic Diseases
17. Additional file 3 of Galactose epimerase deficiency: lessons from the GalNet registry
18. Clinical presentation and outcome in a series of 88 patients with the cblC defect
19. Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG
20. Emergency Diagnostic Procedures and Emergency Treatment
21. Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression
22. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
23. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
24. Physical Abnormalities in Metabolic Diseases
25. Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic
26. Retinal On-Pathway Deficit in Congenital Disorder of Glycosylation Due to Phosphomannomutase Deficiency
27. Criss-cross gait
28. Inborn errors of metabolism leading to neuronal migration defects
29. Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: data from the E‐HOD registry
30. International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up
31. Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups
32. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
33. Clinical presentation and outcome in a series of 88 patients with the cblC defect
34. Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie
35. Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia
36. International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up
37. Persistently elevated CK and lysosomal storage myopathy associated with mucolipin 1 defects
38. Inborn errors of metabolism leading to neuronal migration defects.
39. Liver transplantation for neonatal-onset citrullinemia
40. Emergency diagnostic procedures and emergency treatment
41. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
42. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
43. Physical Abnormalities in Metabolic Diseases.
44. The development of a multiplexed, rapid, mass spectrometry-based test for new and existing biomarkers to identify and monitor kidney disease in pediatric Fabry disease patients
45. The development of a rapid, multiplexed UPLC–MS/MS assay for quantitation of lyso-Gb3 and Gb3 in dried blood spots
46. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
47. Congenital disorders of glycosylation : clinical and molecular studies
48. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
49. Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation
50. The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia)
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