Suchergebnisse - "Ficicioglu, Can"

PubPharm (181)

11

Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin $ B_{12} $

enthalten in: Clinical epigenetics | 2022

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

12

Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin $ B_{12} $

enthalten in: Clinical epigenetics | 2022

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

13

Newborn Screening for X-Linked Adrenoleukodystrophy : Review of Data and Outcomes in Pennsylvania

enthalten in: International journal of neonatal screening | 2022

von Priestley, J. | Adang, L. | Drewes Williams, S. | +9

14

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

enthalten in: Frontiers in genetics | 2022

von Brower, A. | Chan, K. | Williams, M. | +24

15

Perceptions and use of phenylbutyrate metabolite testing in urea cycle disorders : Results of a clinician survey and analysis of a centralized testing database

enthalten in: Molecular genetics and metabolism | 2022

von Ficicioglu, C. | Liu, N. | Sun, Q. | +4

16

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

17

The Editor's Choice for Issue 2, Volume 7

enthalten in: International journal of neonatal screening | 2021

von Ficicioglu, C.

18

Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?

enthalten in: Molecular genetics and metabolism | 2021

von Čechová, A. | Honzík, T. | Edmondson, A. | +15

19

Provider Perspectives on the Impact of the COVID-19 Pandemic on Newborn Screening

enthalten in: International journal of neonatal screening | 2021

von Gold, J. | Campbell, I. | Ficicioglu, C.

20

Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening : the benefits of early treatment with enzyme replacement therapy and immune tolerance induction

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2021

von Li, C. | Desai, A. | Gupta, P. | +8