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21 . Academic Journal
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments
저자
by
Jérôme Stirnemann
;
Nadia Belmatoug
;
Fabrice Camou
;
Christine Serratrice
;
Roseline Froissart
, et al.
소스
International Journal of Molecular Sciences, Vol 18, Iss 2, p 441 (2017)
Open Access (DOAJ)
Web of Science
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27 .
Maladie héréditaire du métabolisme et allogreffe de cellules souches hématopoïétiques : indication, modalité et suivi. Recommandations de la SFGM-TC
저자
by
Charlotte Jubert
;
Eva De Berranger
;
Martin Castelle
;
Jean-Hugues Dalle
;
Marie Ouachee-Chardin
, et al.
소스
Bulletin du Cancer
. 110:S1-S12
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27 .
Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients
저자
by
Antoine Gardin
;
Martin Castelle
;
Samia Pichard
;
Aline Cano
;
Brigitte Chabrol
, et al.
소스
Bone Marrow Transplantation
. 58:295-302
Open Access (OpenAIRE)
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27 .
Oral SGLT2 Inhibitors in Glycogen Storage Disease Type Ib and G6PC3-Deficiency. Preliminary Results from an Off-Label Study of 21 Patients
저자
by
Jean Donadieu
;
Aurelia Alimi
;
Anais Brassier
;
Blandine Beaupain
;
Camille Wicker
, et al.
소스
Blood
. 140:8320-8322
Full Text (ScienceDirect O/A)
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27 .
Successful treatment of severe MSUD in Bckdhb −/− mice with neonatal AAV gene therapy
저자
by
Clément Pontoizeau
;
Clovis Gaborit
;
Nolan Tual
;
Marcelo Simon‐Sola
;
Irina Rotaru
, et al.
소스
Journal of Inherited Metabolic Disease
.
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27 .
Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin‐1‐deficient patients
저자
by
Caroline Tuchmann‐Durand
;
Célina Roda
;
Perrine Renard
;
Guillaume Mortamet
;
Claire‐Marine Bérat
, et al.
소스
Journal of Inherited Metabolic Disease
.
Open Access (OpenAIRE)
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27 .
Troubles cognitifs dans la xanthomatose cérébrotendineuse : une étude de cohorte pédiatrique et adulte
저자
by
Quentin Salardaine
;
Natalia Shor
;
Nicolas Villain
;
Frédérique Bozon
;
Manuel Schiff
, et al.
소스
Revue Neurologique
. 179:S36-S37
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27 .
Transition from child to adult health care for patients with lysosomal storage diseases in France: current status and priorities—the TENALYS study, a patient perspective survey
저자
by
Samia Pichard
;
Marc G. Berger
;
Armelle Arnoux
;
Nadia Belmatoug
;
Delphine Genevaz
, et al.
소스
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2022, 17 (1), pp.68. ⟨10.1186/s13023-022-02232-w⟩
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27 .
Fructose‐1,6‐bisphosphatase deficiency causes fatty liver disease and requires long‐term hepatic follow‐up
저자
by
Magali Gorce
;
Elise Lebigot
;
Alina Arion
;
Anaïs Brassier
;
Aline Cano
, et al.
소스
Journal of inherited metabolic disease, Vol. 45, no.2, p. 215-222 (2022)
Open Access (OpenAIRE)
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27 .
A Retrospective Multicentric Study of 34 Patients with Niemann-Pick Type C Disease and Early Liver Involvement in France
저자
by
Antoine Gardin
;
Charlotte Mussini
;
Bénédicte Héron
;
Manuel Schiff
;
Anaïs Brassier
, et al.
소스
The Journal of pediatrics
.
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