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1 . Academic Journal
Renal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions
저자
by
Estève, Emmanuel
;
Krug, Pauline
;
Hummel, Aurélie
;
Arnoux, Jean-Baptiste
;
Boyer, Olivia
, et al.
소스
In
Human Pathology
April 2017 62:160-169
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7 . Academic Journal
FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation
저자
by
Montealegre, Sebastian
;
Lebigot, Elise
;
Debruge, Hugo
;
Romero, Norma
;
Héron, Bénédicte
, et al.
소스
Neurology: Genetics
. Feb 01, 2022 8(1):e0648-e0648
Full Text (LWW)
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7 . Academic Journal
Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?
저자
by
Barcia, Giulia
;
Chemaly, Nicole
;
Gobin, Stephanie
;
Milh, Mathieu
;
Van Bogaert, Patrick
, et al.
소스
In
European Journal of Medical Genetics
January 2014 57(1):15-20
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7 . Academic Journal
Intrafamilial Variability in LPIN1-Related Rhabdomyolysis.
저자
by
Pons, Linda
;
acquaviva-Bourdain, Cécile
;
Teyssedre, Sonia
;
Didier, Capucine
;
Veauville, alice
, et al.
소스
Molecular Syndromology; 2020, Vol. 11 Issue 3, p153-156, 4p
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7 . Academic Journal
Autism spectrum disorders in propionic acidemia patients.
저자
by
de la Bâtie, Caroline Dejean
;
Barbier, Valérie
;
Roda, Célina
;
Brassier, Anaïs
;
Arnoux, Jean-Baptiste
, et al.
소스
Journal of Inherited Metabolic Disease; Jul2018, Vol. 41 Issue 4, p623-629, 7p
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7 . Academic Journal
Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles.
저자
by
Kuster, Alice
;
Arnoux, Jean-Baptiste
;
Barth, Magalie
;
Lamireau, Delphine
;
Houcinat, Nada
, et al.
소스
Journal of Inherited Metabolic Disease; Jan2018, Vol. 41 Issue 1, p129-139, 11p
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7 . Academic Journal
Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood.
저자
by
Mauhin, Wladimir
;
Habarou, Florence
;
Gobin, Stéphanie
;
Servais, Aude
;
Brassier, Anaïs
, et al.
소스
Orphanet Journal of Rare Diseases
. 1/5/2017, Vol. 12, p1-12. 12p.
Open Access (BioMed Central)
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7 . Academic Journal
Clinical and biological characterization of 20 patients withTANGO2deficiency indicates novel triggers of metabolic crises and no primary energetic defect
저자
by
Berat, Claire-Marine
;
Montealegre, Sebastian
;
Wiedemann, Arnaud
;
Nuzum, Malou Le Corronc
;
Blondel, Amelie
, et al.
소스
JOURNAL OF INHERITED METABOLIC DISEASE
; SEP 28 2020, 11p.
Scopus
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7 . Academic Journal
Intrafamilial Variability inLPIN1-Related Rhabdomyolysis
저자
by
Pons, Linda
;
Acquaviva-Bourdain, Cecile
;
Teyssedre, Sonia
;
Didier, Capucine
;
Veauville, Alice
, et al.
소스
MOLECULAR SYNDROMOLOGY
; JUL 2020, 11 3, p153-p156, 4p.
Scopus
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7 . Academic Journal
Dilated Cardiomyopathy and Premature Ovarian Failure Unveiling Propionic Aciduria.
저자
by
Grotto, Sarah
;
Sudrié-Arnaud, Bénédicte
;
Drouin-Garraud, Valérie
;
Nafeh-Bizet, Catherine
;
Chadefaux-Vekemans, Bernadette
, et al.
소스
Clinical Chemistry; Apr2018, Vol. 64 Issue 4, p752-754, 3p, 1 Diagram, 1 Graph
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