46 results on '"Stoeckler-Ipsiroglu, Sylvia"'
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2. Disorders of Creatine Metabolism
3. Creatine Deficiency Syndromes
4. Disorders of Creatine Metabolism
5. Creatine Deficiency Syndromes
6. Disorders of Creatine Metabolism
7. Disorders of Ornithine and Creatine Metabolism
8. Guanidinoacetate Methyltransferase Deficiency
9. Creatine Transporter Deficiency
10. Arginine-Glycine Amidinotransferase Deficiency
11. Progression of organ manifestations upon enzyme replacement therapy in a patient with mucopolysaccharidosis type I/Hurler
12. Biochemical and Molecular Characterization of 18 Patients With Pyridoxine-Dependent Epilepsy and Mutations of the Antiquitin (ALDH7A1) Gene
13. HYPOXANTHINE IN A FOREARM EXERCISE TEST IN HEALTHY ADULTS AND ADOLESCENTS WITH METABOLIC MYOPATHIES
14. Budd-Chiari syndrome associated with coagulation abormalities in a child with carbohydrate deficient glycoprotein syndrome type Ix
15. Changes of tissue creatine concentrations upon oral supplementation of creatine-monohydrate in various animal species
16. Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolism
17. 89. Progression of organ manifestations upon enzyme replacement therapy in a patient with mucopolysaccharidosis type IH prior to hematopoietic stem cell transplantation
18. Long-term Follow-up of Patients with Congenital Hyperinsulinism in Austria
19. Neurological and brain MRS findings in patients with Gaucher disease type 1
20. Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene
21. Oral β-Hydroxybutyrate Supplementation in Two Patients with Hyperinsulinemic Hypoglycemia: Monitoring of β-Hydroxybutyrate Levels in Blood and Cerebrospinal Fluid, and in the Brain by In Vivo Magnetic Resonance Spectroscopy
22. Cerebral Doppler Sonography of the Neonate: A Résumé After 20 Years and Future Aspects
23. Oral -Hydroxybutyrate Supplementation in Two Patients with Hyperinsulinemic Hypoglycemia Monitoring of -Hydroxybutyrate Levels in Blood and Cerebrospinal Fluid, and in the Brain by In Vivo Magnetic Resonance Spectroscopy
24. Nondisjunction of chromosomes leading to hyperdiploid childhood B-cell precursor acute lymphoblastic leukemia is an early event during leukemogenesis
25. Ziliendiagnostik
26. Pulmonale Alveolarproteinosen : Molekulare Grundlagen und Konsequenzen für Diagnostik und Therapie
27. Aktuelle Entwicklungen auf dem Gebiet der Lebertransplantation im Kindesalter
28. Masernimpfung in Deutschland : Das Ziel ist die Elimination der Masern in Europa
29. Psychopathologie bei geistiger Behinderung : Klinik, Diagnostik und Therapie
30. Inkubationsimpfungen
31. Pneumonien im Kindesalter : Altersabhängigkeit, Formen, therapeutische Konsequenzen
32. Pneumokokken und Pneumokokkenimpfstoffe : Bedeutung für die Pädiatrie
33. Ansteckungsgefahr durch Typhus-Bakterien bei Auslandsreisen
34. Chronische Virushepatitiden im Kindesalter
35. Durch Staphylococcus aureus verursachtes Toxic-shock-Syndrom
36. Suizide und Suizidversuche im Kindes- und Jugendalter
37. Unterstützende Maßnahmen zur Krankheitsbewältigung
38. Diagnose und Therapie der Lese-Rechtschreibstörung
39. Thrombosen im Kindesalter
40. Diagnostik und Therapie des unbekannten Stoffwechselnotfalls : Ein praktischer Leitfaden
41. Meteorismus
42. Phenylketonurie und Hyperphenylalaninämie
43. Chromosomale Mikrodeletionssyndrome
44. Long-term follow-up of patients with congenital hyperinsulinism in Austria.
45. Gene symbol: PVRL1. Disease: non-syndromic cleft lip and palate (CL+P).
46. Oral beta-hydroxybutyrate supplementation in two patients with hyperinsulinemic hypoglycemia: monitoring of beta-hydroxybutyrate levels in blood and cerebrospinal fluid, and in the brain by in vivo magnetic resonance spectroscopy.
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