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11 .
Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia
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by
Zeynep Demir
;
Apolline Imbard
;
Caroline Sevin
;
Anne Davit-Spraul
;
Jean-François Benoist
, et al.
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Molecular Genetics and Metabolism
. 132:38-43
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17 .
Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle
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by
Michèle Brivet
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Pauline Gaignard
;
Manuel Schiff
.
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Inborn Metabolic Diseases ISBN: 9783662631225
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15 .
Expanding the phenotype of mitochondrial disease: Novel pathogenic variant in ISCA1 leading to instability of the iron-sulfur cluster in the protein
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by
M. Hully
;
Elise Lebigot
;
Pauline Gaignard
;
Patrice Therond
;
Thomas Michel
, et al.
소스
Mitochondrion
Mitochondrion, Elsevier, 2020, ⟨10.1016/j.mito.2020.02.008⟩
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17 .
Brain White Matter Lesions and Presumed Crohn’s Disease: Did You Consider MNGIE?
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by
Pauline Gaignard
;
Natalia Shor
;
Xavier Treton
;
Yann Nadjar
;
Vanessa Boehm
, et al.
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Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
. 47:572-575
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17 .
Adult Cerebellar Ataxia, Axonal Neuropathy, and Sensory Impairments Caused by Biallelic SCO2 Variants
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by
Virginie Saillour
;
Jean-Madeleine de Sainte Agathe
;
Valérie Touitou
;
Pauline Gaignard
;
Claire Ewenczyk
, et al.
소스
Neurology Genetics
Neurology Genetics, American Academy of Neurology, 2021, 7 (6), pp.e630. ⟨10.1212/nxg.0000000000000630⟩
Neurology: Genetics
article-version (Version of Record) 3
Neurology Genetics, 2021, 7 (6), pp.e630. ⟨10.1212/nxg.0000000000000630⟩
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17 .
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
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by
Georg F. Vogel
;
Yael Mozer-Glassberg
;
Yuval E. Landau
;
Lea D. Schlieben
;
Holger Prokisch
, et al.
소스
Genetics in Medicine, 25, 6
Genet. Med., 100314 (2022)
Genetics in Medicine, 25
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17 .
Expanding and Underscoring the Hepato‐Encephalopathic Phenotype of QIL1/MIC13
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by
Alexander Miethke
;
Giulia Barcia
;
Dominique Debray
;
Jonathan Lévy
;
Manuel Schiff
, et al.
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Hepatology
. 70:1066-1070
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17 .
Steroids in Stroke with Special Reference to Progesterone
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by
Xiaoyan Zhu
;
Pauline Gaignard
;
Rachida Guennoun
;
Michael Schumacher
;
Magalie Fréchou
, et al.
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Cellular and Molecular Neurobiology
. 39:551-568
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17 .
FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation
저자
by
Sebastian Montealegre
;
Elise Lebigot
;
Hugo Debruge
;
Norma Romero
;
Bénédicte Héron
, et al.
소스
Neurology: Genetics
article-version (Version of Record) 3
Neurology Genetics
Neurology Genetics, American Academy of Neurology, 2022, 8 (1), ⟨10.1212/NXG.0000000000000648⟩
Neurology Genetics, 2022, 8 (1), ⟨10.1212/NXG.0000000000000648⟩
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17 .
Response to systemic therapy in fumarate hydratase-deficient renal cell carcinoma
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by
Bernard Escudier
;
Pauline Gaignard
;
Constance Thibault
;
Jean-Yves Scoazec
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Emeline Colomba
, et al.
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European journal of cancer (Oxford, England : 1990)
. 151
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