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1 . Academic Journal
Citrulline in the management of patients with urea cycle disorders
저자
by
Apolline Imbard
;
Juliette Bouchereau
;
Jean-Baptiste Arnoux
;
Anaïs Brassier
;
Manuel Schiff
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Open Access (BioMed Central)
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7 . Academic Journal
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study
저자
by
Cécile Freihuber
;
Bahia Dahmani-Rabehi
;
Anaïs Brassier
;
Pierre Broué
;
Claude Cances
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Open Access (BioMed Central)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts
저자
by
Gorka Fernández-Eulate
;
Gilles C. Martin
;
Pascal Dureau
;
Claude Speeg-Spatz
;
Anais Brassier
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-6 (2022)
Open Access (BioMed Central)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
Intravenous administration of a branched-chain amino-acid-free solution in children and adults with acute decompensation of maple syrup urine disease: a prospective multicentre observational study
저자
by
Jean-Meidi Alili
;
Marie-Pierre Berleur
;
Marie-Caroline Husson
;
Karine Mention
;
Manuel Schiff
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Open Access (BioMed Central)
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7 . Academic Journal
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
Delphine Genevaz
;
Armelle Arnoux
;
Catherine Marcel
;
Anaïs Brassier
;
Samia Pichard
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)
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7 . Academic Journal
Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening
저자
by
Hela Hajji
;
Apolline Imbard
;
Anne Spraul
;
Ludmia Taibi
;
Valérie Barbier
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100933- (2022)
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7 . Academic Journal
Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up
저자
by
Tanguy Demaret
;
Florence Lacaille
;
Camille Wicker
;
Jean-Baptiste Arnoux
;
Juliette Bouchereau
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
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7 . Academic Journal
Real‐world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid‐free formulas in France and Germany: A retrospective observational study
저자
by
Pascale de Lonlay
;
Roland Posset
;
Ulrike Mütze
;
Karine Mention
;
Delphine Lamireau
, et al.
소스
JIMD Reports, Vol 59, Iss 1, Pp 110-119 (2021)
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7 . Academic Journal
Long-term renal outcome in methylmalonic acidemia in adolescents and adults
저자
by
Myriam Dao
;
Jean-Baptiste Arnoux
;
Frank Bienaimé
;
Anaïs Brassier
;
François Brazier
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
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7 . Academic Journal
Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies
저자
by
Suresh Vijay
;
Anais Brassier
;
Arunabha Ghosh
;
Simona Fecarotta
;
Florian Abel
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)
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