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1 . Academic Journal
Inborn Errors of Ketone Body Metabolism and Transport: An Update for the Clinic and for Clinical Laboratories
저자
by
Sass, Jörn Oliver
;
Fukao, Toshiyuki
;
Mitchell, Grant A.
.
소스
Journal of Inborn Errors of Metabolism and Screening
. January 2018 6
Open Access (SciELO)
Scopus
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5 . Academic Journal
The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients
저자
by
Demaret, Tanguy
;
Bédard, Karine
;
Soucy, Jean-François
;
Watkins, David
;
Allard, Pierre
, et al.
소스
In
Molecular Genetics and Metabolism
May 2024 142(1)
Full Text (ScienceDirect)
Web of Science
Scopus
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7 . Academic Journal
A Class of Reactive Acyl-CoA Species Reveals the Non-enzymatic Origins of Protein Acylation
저자
by
Wagner, Gregory R.
;
Bhatt, Dhaval P.
;
O’Connell, Thomas M.
;
Thompson, J. Will
;
Dubois, Laura G.
, et al.
소스
In
Cell Metabolism
4 April 2017 25(4):823-837
Full Text (ScienceDirect)
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7 . Academic Journal
TUFM variants lead to white matter abnormalities mimicking multiple sclerosis.
저자
by
Chen, Shihan
;
Mitchell, Grant A.
;
Soucy, Jean‐Francois
;
Gauthier, Julie
;
Brais, Bernard
, et al.
소스
European Journal of Neurology
. Oct2023, Vol. 30 Issue 10, p3400-3403. 4p.
Open Access (Wiley)
Web of Science
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7 .
Insulin therapy in acute decompensation of holocarboxylase synthetase deficiency with hyperglycemia and ketoacidosis
저자
by
Demaret, Tanguy
;
Joyal, Jean-Sébastien
;
Karalis, Aspasia
;
Parente, Fabienne
;
Delrue, Marie-Ange
, et al.
소스
In
Molecular Genetics and Metabolism Reports
June 2024 39
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7 . Academic Journal
Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping.
저자
by
Fahiminiya, Somayyeh
;
Oikonomopoulos, Spyros
;
Rivard, Georges‐Etienne
;
Gandhi, Mira
;
Scott, Patrick
, et al.
소스
Haemophilia
. May2023, Vol. 29 Issue 3, p921-924. 4p. 2 Diagrams.
Web of Science
Scopus
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7 . Academic Journal
Aortic Dilatation Associated With a De Novo Mutation in the SOX18 Gene: Expanding the Clinical Spectrum of Hypotrichosis-Lymphedema-Telangiectasia Syndrome
저자
by
Wünnemann, Florian
;
Kokta, Victor
;
Leclerc, Séverine
;
Thibeault, Maryse
;
McCuaig, Catherine
, et al.
소스
In
Canadian Journal of Cardiology
January 2016 32(1):135-135
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7 . Academic Journal
Acute Tubular Dysfunction With Fanconi Syndrome: A New Manifestation of Mitochondrial Cytopathies
저자
by
Debray, François-Guillaume
;
Merouani, Aicha
;
Lambert, Marie
;
Brochu, Pierre
;
Bernard, Chantal
, et al.
소스
In
American Journal of Kidney Diseases
2008 51(4):691-696
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7 . Academic Journal
An Infant with Bilateral Keratitis: From Infectious to Genetic Diagnosis.
저자
by
Thibault, Louis-Philippe
;
Mitchell, Grant A.
;
Parisien, Brigitte
;
Hamel, Patrick
;
Blanchard, Ana C.
.
소스
American Journal of Case Reports
. 11/30/2022, Vol. 23, pe937967-1-e937967-6. 6p.
Scopus
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7 . Academic Journal
Cardiac-specific deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase in mice causes cardiomyopathy and a distinct pattern of acyl-coenzyme A-related biomarkers.
저자
by
Yang, Hao
;
Wang, Youlin
;
Tang, Marie-Christine
;
Waters, Paula
;
Wang, Shupei
, et al.
소스
Molecular Genetics & Metabolism
. Nov2022, Vol. 137 Issue 3, p257-264. 8p.
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