La cirrhose amérindienne infantile = North American Indian childhood eirrhosis (NAIC)RICHTER, Andréa; MITCHELL, Grant A; RASQUIN, Andrée et al.MS. Médecine sciences. 2007, Vol 23, Num 11, pp 1002-1007, issn 0767-0974, 6 p.Article

Fetal dilated cardiomyopathy : an unsuspected presentation of methylmalonic aciduria and hyperhomocystinuria, cblC typetDE BIE, Isabelle; DAL POZZO NIZARD, Sonia; MITCHELL, Grant A et al.Prenatal diagnosis. 2009, Vol 29, Num 3, pp 266-270, issn 0197-3851, 5 p.Article

Liver Specific Inactivation of Carboxylesterase 3/Triacylglycerol Hydrolase Decreases Blood Lipids Without Causing Severe Steatosis in MiceJIHONG LIAN; ENHUI WEI; SHU PEI WANG et al.Hepatology (Baltimore, Md.). 2012, Vol 56, Num 6, pp 2154-2162, issn 0270-9139, 9 p.Article

Recurrent pancreatitis in mitochondrial cytopathyDEBRAY, Francois-Guillaume; DROUIN, Eric; HERZOG, Denise et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 21, pp 2330-2335, issn 1552-4825, 6 p.Article

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency : Clinical course and description of causal mutations in two patientsBOUCHARD, Luigi; ROBERT, Marie-France; BOUKAFTANE, Youssef et al.Pediatric research. 2001, Vol 49, Num 3, pp 326-331, issn 0031-3998Article

Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamusMICHAUD, Jacques L; BOUCHER, Francine; MELNYK, Anna et al.Human molecular genetics (Print). 2001, Vol 10, Num 14, pp 1465-1473, issn 0964-6906Article

Deficiency of Liver Adipose Triglyceride Lipase in Mice Causes Progressive Hepatic SteatosisJIANG WEI WU; SHU PEI WANG; ALVAREZ, Fernando et al.Hepatology (Baltimore, Md.). 2011, Vol 54, Num 1, pp 122-132, issn 0270-9139, 11 p.Article

Development and description of GETT: a Genetic testing Evidence Tracking Tool: International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) - IFCC Scientific Division Committee on Molecular DiagnosticsROUSSEAU, François; LINDSAY, Carmen; OLIGNY, Luc et al.Clinical chemistry and laboratory medicine. 2010, Vol 48, Num 10, pp 1397-1407, issn 1434-6621, 11 p.Article

Alterations in the Testis of Hormone Sensitive Lipase-Deficient Mice Is Associated With Decreased Sperm Counts, Sperm Motility, and FertilityHERMO, Louis; CHUNG, Shari; GREGORY, Mary et al.Molecular reproduction and development (Print). 2008, Vol 75, Num 4, pp 565-577, issn 1040-452X, 13 p.Article

Pathways and control of ketone body metabolism: on the fringe of lipid biochemistryFUKAO, Toshiyuki; LOPASCHUK, Gary D; MITCHELL, Grant A et al.Prostaglandins, leukotrienes and essential fatty acids. 2004, Vol 70, Num 3, pp 243-251, issn 0952-3278, 9 p.Article

Expression and localization of organic cation/carnitine transporter OCTN2 in Caco-2 cellsELIMRANI, Ihsan; LAHJOUJI, Karim; SEIDMAN, Ernest et al.American journal of physiology. Gastrointestinal and liver physiology. 2003, Vol 47, Num 5, pp G863-G871, issn 0193-1857Article

Acute Tubular Dysfunction With Fanconi Syndrome : A New Manifestation of Mitochondrial CytopathiesDEBRAY, Francois-Guillaume; MEROUANI, Aicha; LAMBERT, Marie et al.American journal of kidney diseases. 2008, Vol 51, Num 4, pp 691-696, issn 0272-6386, 6 p.Article

Long-term outcome of leigh syndrome caused by the NARP-T8993C mtDNA mutationDEBRAY, Francois-Guillaume; LAMBERT, Marie; LORTIE, Anne et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 17, pp 2046-2051, issn 1552-4825, 6 p.Article

Expression of human hormone-sensitive lipase (HSL) in postmeiotic germ cells confers normal fertility to HSL-deficient miceSHU PEI WANG; CHUNG, Shari; SONI, Krishnakant et al.Endocrinology (Philadelphia). 2004, Vol 145, Num 12, pp 5688-5693, issn 0013-7227, 6 p.Article

A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16LEE, Nana; DALY, Mark J; DELMONTE, Terrye et al.American journal of human genetics. 2001, Vol 68, Num 2, pp 397-409, issn 0002-9297Article

A role for hormone-sensitive lipase in glucose-stimulated insulin secretion : A study in hormone-sensitive lipase-deficient miceRODUIT, Raphaël; MASIELLO, Pellegrino; SHU PEI WANG et al.Diabetes (New York, NY). 2001, Vol 50, Num 9, pp 1970-1975, issn 0012-1797Article

Fasting Energy Homeostasis in Mice with Adipose Deficiency of Desnutrin/Adipose Triglyceride LipaseJIANG WEI WU; SHU PEI WANG; CASAVANT, Stéphanie et al.Endocrinology (Philadelphia). 2012, Vol 153, Num 5, pp 2198-2207, issn 0013-7227, 10 p.Article

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet—Biedl syndrome patient populationBILLINGSLEY, Gail; BIN, Jenea; CHITAYAT, David et al.Journal of medical genetics. 2010, Vol 47, Num 7, pp 453-463, issn 0022-2593, 11 p.Article

The stoichiometry of protein phosphorylation in adipocyte lipid droplets: Analysis by N-terminal isotope tagging and enzymatic dephosphorylationKANSHIN, Evgeny; SHUPEI WANG; ASHMARINA, Lyudmila et al.Proteomics (Weinheim. Print). 2009, Vol 9, Num 22, pp 5067-5077, issn 1615-9853, 11 p.Article

3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency with reversible white matter changes after treatmentZAFEIRIOU, Dimitrios I; VARGIAMI, Euthymia; MAYAPETEK, Ertan et al.Pediatric neurology. 2007, Vol 37, Num 1, pp 47-50, issn 0887-8994, 4 p.Article

Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseasesDEBRAY, Francois-Guillaume; LAMBERT, Marie; CHEVALIER, Isabelle et al.Pediatrics (Evanston). 2007, Vol 119, Num 4, pp 722-733, issn 0031-4005, 12 p.Article

Spinal muscular atrophy: Clinical validation of a single-tube multiplex real time PCR assay for determination of SMN1 and SMN2 copy numbersMARANDA, Bruno; LI FAN; SOUCY, Jean-François et al.Clinical biochemistry. 2012, Vol 45, Num 1-2, pp 88-91, issn 0009-9120, 4 p.Article

LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiencyDEBRAY, François-Guillaume; MORIN, Charles; ROBINSON, Brian H et al.Journal of medical genetics. 2011, Vol 48, Num 3, pp 183-189, issn 0022-2593, 7 p.Article

Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiencyDEBRAY, Francois-G; LAMBERT, Marie; VANASSE, Michel et al.European journal of pediatrics. 2006, Vol 165, Num 7, pp 462-466, issn 0340-6199, 5 p.Article

Hormone-sensitive lipase knockout mice have increased hepatic insulin sensitivity and are protected from short-term diet-induced insulin resistance in skeletal muscle and heartPARK, So-Young; KIM, Hyo-Jeong; MITCHELL, Grant A et al.American journal of physiology. Endocrinology and metabolism. 2005, Vol 52, Num 1, pp E30-E39, issn 0193-1849Article