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1 . Academic Journal
Case report: Exceptional transmission of congenital hyperinsulinism from a focal CHI mother to her diffuse CHI dichorionic diamniotic twins
저자
by
Daniela Telehuz
;
Oana Plesa
;
Florence Bouilloud
;
Helene Wucher
;
Pascale De Lonlay
, et al.
소스
Frontiers in Endocrinology, Vol 15 (2024)
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7 . 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
Improving the clinical accuracy and flexibility of the Alkaptonuria severity score index
저자
by
Harriet E. O. Cant
;
Iro Chatzidaki
;
Birgitta Olsson
;
Mattias Rudebeck
;
Jean‐Baptiste Arnoux
, et al.
소스
JIMD Reports, Vol 63, Iss 4, Pp 361-370 (2022)
Open Access (Wiley)
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7 . Academic Journal
Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice
저자
by
Clément Pontoizeau
;
Marcelo Simon-Sola
;
Clovis Gaborit
;
Vincent Nguyen
;
Irina Rotaru
, et al.
소스
Nature Communications, Vol 13, Iss 1, Pp 1-13 (2022)
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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)
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7 . Academic Journal
Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families
저자
by
Indraneel Banerjee
;
Julie Raskin
;
Jean-Baptiste Arnoux
;
Diva D. De Leon
;
Stuart A. Weinzimer
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (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
Effects of a protein‐restricted diet on body weight and serum tyrosine concentrations in patients with alkaptonuria
저자
by
Birgitta Olsson
;
Lakshminarayan Ranganath
;
Jean‐Baptiste Arnoux
;
Richard Imrich
;
Anna Milan
, et al.
소스
JIMD Reports, Vol 63, Iss 1, Pp 41-49 (2022)
Open Access (Wiley)
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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
Radiological evolution of spinal disease in alkaptonuria and the effect of nitisinone
저자
by
Lakshminarayan R Ranganath
;
Milad Khedr
;
Jean-Baptiste Arnoux
;
Jozef Rovensky
;
Richard Jackson
, et al.
소스
RMD Open, Vol 8, Iss 2 (2022)
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