Suchergebnisse - "Pichard, Samia"

PubPharm (37)

1

Natural history of GM1 gangliosidosis-Retrospective cohort study of 61 French patients from 1998 to 2019

enthalten in: Journal of inherited metabolic disease | 2023

von Laur, D. | Pichard, S. | Bekri, S. | +7

2

Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004 : A French real-life observational study

enthalten in: European journal of neurology | 2023

von Tardieu, M. | Cudejko, C. | Cano, A. | +32

3

Motor outcomes in patients with infantile and juvenile Pompe disease : Lessons from neurophysiological findings

enthalten in: Molecular genetics and metabolism | 2023

von Brassier, A. | Pichard, S. | Schiff, M. | +14

4

Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C : a national French retrospective study

enthalten in: Orphanet journal of rare diseases | 2023

von Freihuber, C. | Dahmani-Rabehi, B. | Brassier, A. | +11

5

Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H : a retrospective study of 51 patients

enthalten in: Bone marrow transplantation | 2023

von Gardin, A. | Castelle, M. | Pichard, S. | +32

6

Individual and Family Determinants for Quality of Life in Parents of Children with Inborn Errors of Metabolism Requiring a Restricted Diet : A Multilevel Analysis Approach

enthalten in: The Journal of pediatrics | 2023

von Ouattara, A. | Resseguier, N. | Cano, A. | +26

7

Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study : The 6-month primary analysis report

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2023

von Kishnani, P. | Kronn, D. | Brassier, A. | +16

8

Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening

enthalten in: Molecular genetics and metabolism reports | 2022

von Hajji, H. | Imbard, A. | Spraul, A. | +13

9

Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency

enthalten in: Journal of medical genetics | 2022

von Tebani, A. | Sudrié-Arnaud, B. | Dabaj, I. | +44

10

Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted Diet

enthalten in: The Journal of pediatrics | 2022

von Ouattara, A. | Resseguier, N. | Cano, A. | +26

CommentIn: J Pediatr. 2023 Mar;254:1-3. - PMID 36228681