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Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP–sialic acid transporter

Blood, 2005-04, Vol.105 (7), p.2671-2676

2005

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Clinical and paraclinical features of phosphoglucomutase type 1 deficiency: Biochemical clues for the diagnosis

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S221-S221

2015

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Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene

Neuromuscular disorders : NMD, 2019-07, Vol.29 (7), p.497-502

2019

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Confidence of Graduating Internal Medicine Residents to Perform Ambulatory Procedures

Journal of general internal medicine : JGIM, 2000-06, Vol.15 (6), p.361-365

2000

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The ILO October Inquiry: Statistics on Occupational Wages and Hours of Work and on Retail Food Prices

Industrial relations (Berkeley), 2005-01, Vol.44 (1), p.193-196

Dupre, M T

2005

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Patient Preferences for Care by General Internists and Specialists in the Ambulatory Setting

Journal of general internal medicine : JGIM, 2000-02, Vol.15 (2), p.75-83

2000

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Confidence of Academic General Internists and Family Physicians to Teach Ambulatory Procedures

Journal of general internal medicine : JGIM, 2000-06, Vol.15 (6), p.353-360

2000

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Defect in N-glycosylation of proteins is tissue-dependent in congenital disorders of glycosylation Ia

Glycobiology (Oxford), 2000-12, Vol.10 (12), p.1277-1281

2000

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Congenital disorder of glycosylation ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern

Clinical chemistry (Baltimore, Md.), 2001, Vol.47 (1), p.132-134

2001

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Teaching women's health skills: Confidence, attitudes, and practice patterns of academic generalist physicians

Journal of general internal medicine : JGIM, 2003-06, Vol.18 (6), p.411-418

2003

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Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia)

Journal of medical genetics, 2009-04, Vol.46 (4), p.287-288

2009

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Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations

Journal of medical genetics, 2010-11, Vol.47 (11), p.729-735

2010

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Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients

Journal of medical genetics, 2000-08, Vol.37 (8), p.579-580

2000

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Orange palpebral spots

Dermatology (Basel), 2008-01, Vol.216 (2), p.166-170

2008

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Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review

Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.313-319

2009

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G.P.119 - Clinical and paraclinical features of phosphoglucomutase type 1 deficiency: Biochemical clues for the diagnosis

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S221-S221

2015

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Localization transition in three dimensions: Monte Carlo simulation of a nonlinear sigma model

Physical review. B, Condensed matter, 1996-11, Vol.54 (18), p.12763-12774

Dupré, T

1996

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Encyclopedia of Gerontology and Population Aging

1, 2021

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Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers

JIMD Reports, Volume 20, 2015-01, Vol.20, p.45-55

2015

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THU0118 25 hydroxyvitamin D interfere with the clinical response to rituximab in rheumatoid arthritis

Annals of the rheumatic diseases, 2013-06, Vol.71 (Suppl 3), p.194-194

2013

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Grossesses après chirurgie bariatrique : recommandations pour la pratique clinique

Obésite, 2019-12, Vol.14 (4), p.163-177

2019

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Hypercaroténémie avec prurit chez un nourrisson

Annales de dermatologie et de vénéréologie, 2012-12, Vol.139 (12), p.B141-B142

2012

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Living with HIV, antiretroviral treatment experience and tobacco smoking : results from a multisite cross-sectional study

Antiviral therapy, 2008-01, Vol.13 (3), p.389-397

2008

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Encyclopedia of Gerontology and Population Aging

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Alteration of mannose transport in fibroblasts from type I carbohydrate deficient glycoprotein syndrome patients

Biochimica et biophysica acta, 1999-03, Vol.1453 (3), p.369-377

1999

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Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP–sialic acid transporter

Clinical and paraclinical features of phosphoglucomutase type 1 deficiency: Biochemical clues for the diagnosis

Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene

Confidence of Graduating Internal Medicine Residents to Perform Ambulatory Procedures

The ILO October Inquiry: Statistics on Occupational Wages and Hours of Work and on Retail Food Prices

Patient Preferences for Care by General Internists and Specialists in the Ambulatory Setting

Confidence of Academic General Internists and Family Physicians to Teach Ambulatory Procedures

Defect in N-glycosylation of proteins is tissue-dependent in congenital disorders of glycosylation Ia

Congenital disorder of glycosylation ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern

Teaching women's health skills: Confidence, attitudes, and practice patterns of academic generalist physicians

Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia)

Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations

Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients

Orange palpebral spots

Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review

G.P.119 - Clinical and paraclinical features of phosphoglucomutase type 1 deficiency: Biochemical clues for the diagnosis

Localization transition in three dimensions: Monte Carlo simulation of a nonlinear sigma model

Encyclopedia of Gerontology and Population Aging

Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers

THU0118 25 hydroxyvitamin D interfere with the clinical response to rituximab in rheumatoid arthritis

Grossesses après chirurgie bariatrique : recommandations pour la pratique clinique

Hypercaroténémie avec prurit chez un nourrisson

Living with HIV, antiretroviral treatment experience and tobacco smoking : results from a multisite cross-sectional study

Encyclopedia of Gerontology and Population Aging

Alteration of mannose transport in fibroblasts from type I carbohydrate deficient glycoprotein syndrome patients

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