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1 . Academic Journal
Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family
저자
by
Sarah Snanoudj
;
Stéphanie Torre
;
Bénédicte Sudrié-Arnaud
;
Lenaig Abily-Donval
;
Alice Goldenberg
, et al.
소스
International Journal of Molecular Sciences, Vol 22, Iss 23, p 12633 (2021)
Open Access (DOAJ)
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7 . Academic Journal
Acute Respiratory Infection Unveiling CPT II Deficiency
저자
by
Nicolas Blah
;
Bénédicte Sudrié-Arnaud
;
Stéphanie Torre
;
Stéphane Marret
;
Soumeya Bekri
, et al.
소스
International Journal of Molecular Sciences, Vol 19, Iss 10, p 2950 (2018)
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7 . Academic Journal
Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria
저자
by
Lenaig Abily-Donval
;
Stéphanie Torre
;
Aurélie Samson
;
Bénédicte Sudrié-Arnaud
;
Cécile Acquaviva
, et al.
소스
International Journal of Molecular Sciences, Vol 18, Iss 11, p 2294 (2017)
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7 . Academic Journal
Comparison in outcomes at two-years of age of very preterm infants born in 2000, 2005 and 2010.
저자
by
Lénaïg Abily-Donval
;
Gaëlle Pinto-Cardoso
;
Alexandra Chadie
;
Anne-Marie Guerrot
;
Stéphanie Torre
, et al.
소스
PLoS ONE, Vol 10, Iss 2, p e0114567 (2015)
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7 .
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies
저자
by
Marie‐Céline François‐Heude
;
Elise Lebigot
;
Emmanuel Roze
;
Marie Thérèse Abi Warde
;
Claude Cances
, et al.
소스
European Journal of Neurology
European Journal of Neurology, 2022, 29 (11), pp.3229-3242. ⟨10.1111/ene.15515⟩
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7 .
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency
저자
by
Tiffany Busa
;
Anaïs Brassier
;
Agathe Roubertie
;
Bénédicte Héron
;
M. Tardieu
, et al.
소스
Journal of Medical Genetics
. 59:377-384
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7 .
Clinical and biological characterization of 20 patients with
TANGO2
deficiency indicates novel triggers of metabolic crises and no primary energetic defect
저자
by
Claire-Marine Bérat
;
Athanasia Stoupa
;
Henri Bruel
;
Lena Damaj
;
Marine Madrange
, et al.
소스
Journal of Inherited Metabolic Disease
. 44:415-425
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7 .
Heterogenous clinical landscape in a consanguineous malonic aciduria family
저자
by
Stéphanie Torre
;
Gajja S. Salomons
;
Soumeya Bekri
;
Alice Goldenberg
;
Stéphane Marret
, et al.
소스
International Journal of Molecular Sciences
International journal of molecular sciences, 22(23):12633. Multidisciplinary Digital Publishing Institute (MDPI)
International Journal of Molecular Sciences, Vol 22, Iss 12633, p 12633 (2021)
Open Access (OpenAIRE)
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7 .
Autophagy modulation enhances enzyme replacement therapy response in Fabry disease
저자
by
Frédéric Barbey
;
Soumeya Bekri
;
Lenaig Abily-Donval
;
Pilon C
;
Céline Lesueur
, et al.
소스
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7 .
Long term outcome of MPI‐CDG patients on D‐mannose therapy
저자
by
Muriel Girard
;
Pascale de Lonlay
;
Arnaud Bruneel
;
Thierry Dupré
;
Lena Damaj
, et al.
소스
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 2020, 43 (6), pp.1360-1369. ⟨10.1002/jimd.12289⟩
Journal of Inherited Metabolic Disease, Vol. 43, No 6 (2020) pp. 1360-1369
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