Suchergebnisse - "Ficicioglu, Can"

PubPharm (181)

1

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

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2024

von Posset, R. | Garbade, S. | Gleich, F. | +58

2

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

enthalten in: Journal of inherited metabolic disease | 2024

von Feillet, F. | Ficicioglu, C. | Lagler, F. | +12

3

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

enthalten in: Journal of inherited metabolic disease | 2022

von Katler, Q. | Stepien, K. | Paull, N. | +25

4

Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency

enthalten in: Annals of clinical and translational neurology | 2022

von Scharre, S. | Posset, R. | Garbade, S. | +47

5

Addition of MPS-II to the Recommended Uniform Screening Panel in the United States

enthalten in: International journal of neonatal screening | 2022

von Millington, D. | Ficicioglu, C.

6

The current state of adult metabolic medicine in the United States : Results of a nationwide survey

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2022

von Gold, J. | Gold, N. | Strong, A. | +4

7

Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care

enthalten in: Pediatrics | 2022

von Szigety, K. | Crowley, T. | Gaiser, K. | +21

8

Lessons Learned From the Long-Term Use of Enzyme Replacement Therapy in the Treatment of Lysosomal Acid Lipase Deficiency

enthalten in: Journal of pediatric gastroenterology and nutrition | 2022

von Strong, A. | Ficicioglu, C.

CommentOn: J Pediatr Gastroenterol Nutr. 2022 Jun 1;74(6):757-764. - PMID 35442238

9

The diagnosis and management of Gaucher disease in pediatric patients : Where do we go from here?

enthalten in: Molecular genetics and metabolism | 2022

von Weinreb, N. | Goker-Alpan, O. | Kishnani, P. | +11

10

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

enthalten in: Clinical epigenetics | 2022

von Oussalah, A. | Siblini, Y. | Hergalant, S. | +19

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