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1. Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders

2. Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study

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. Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders

6. Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12

7. Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG.

8. Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)

10. Characteristics and management of US pediatric patients with Gaucher disease from the Gaucher Outcome Survey

11. CAMPSIITE™ phase I/II/III: An interim clinical study update of RGX-121, an investigational gene therapy for the treatment of neuronopathic mucopolysaccharidosis type II (MPS II)

13. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

14. Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU‐MOMs sub‐registries

16. ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients

18. Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen

20. TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

22. A Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis

23. Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency

24. ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis

27. P486: A global Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis

32. MaP NATURAL HISTORY STUDY: CLINICAL AND BIOMARKER FINDINGS IN PROPIONIC ACIDEMIA

35. Updated interim safety, biomarker, and efficacy data from Imagine-1: A phase 1/2 open-label, multicenter study to assess the safety, tolerability, and efficacy of a single dose, intra-cisterna magna (ICM) administration of PBGM01 in subjects with type I (early onset) and type IIA (late onset) infantile GM1 gangliosidosis (GM1)

37. RGX-121 gene therapy for the treatment of neuronopathic mucopolysaccharidosis type II (MPS II): Interim analysis of data from the first in human study

46. A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT

48. Interim Safety, Biomarker, and Efficacy Data From Imagine-1: A Phase 1/2 Open-label, Multicenter Study to Assess the Safety, Tolerability, and Efficacy of a Single Dose, ICM Administration of PBGM01 in Subjects with Type I (Early Onset) and 10. Type IIa (Late Onset) Infantile GM1 Gangliosidosis (GM1)

49. Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)

50. Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care

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