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Progressive familial intrahepatic cholestasis

Orphanet journal of rare diseases, 2009-01, Vol.4 (1), p.1-1, Article 1

2009

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The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects

Seminars in liver disease, 2010-05, Vol.30 (2), p.134-146

2010

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ATP8B1 and ABCB11 analysis in 62 children with normal gamma‐glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): Phenotypic differences between PFIC1 and PFIC2 and natural history

Hepatology (Baltimore, Md.), 2010-05, Vol.51 (5), p.1645-1655

2010

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Successful Treatment of Severe Cardiomyopathy in Glycogen Storage Disease Type III With D,L-3-Hydroxybutyrate, Ketogenic and High-Protein Diet

Pediatric research, 2011-12, Vol.70 (6), p.638-641

2011

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CFC1 Gene Involvement in Biliary Atresia With Polysplenia Syndrome

Journal of pediatric gastroenterology and nutrition, 2008-01, Vol.46 (1), p.111-112

2008

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Liver glycogen storage diseases due to phosphorylase system deficiencies: Diagnosis thanks to non invasive blood enzymatic and molecular studies

Molecular genetics and metabolism, 2011-09, Vol.104 (1-2), p.137-143

2011

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Liver diseases related to MDR3 (ABCB4) gene deficiency

Frontiers in bioscience, 2009-01, Vol.14 (11), p.4242-4256

2009

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Acute but transient neurological deterioration revealing adult polyglucosan body disease

Journal of the neurological sciences, 2013-01, Vol.324 (1), p.179-182

2013

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Prenatal Molecular Diagnosis of Inherited Cholestatic Diseases

Journal of pediatric gastroenterology and nutrition, 2007-04, Vol.44 (4), p.453-458

2007

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Hereditary fructose intolerance: Frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France—Identification of eight new mutations

Molecular genetics and metabolism, 2008-08, Vol.94 (4), p.443-447

2008

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Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III

Molecular biology reports, 2013-07, Vol.40 (7), p.4197-4202

2013

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A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis

Neuromuscular disorders : NMD, 2006-03, Vol.16 (3), p.178-182

2006

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Progressive familial intrahepatic cholestasis type 3 revealed by oral contraceptive pills

Journal of hepatology, 2003-05, Vol.38 (5), p.693-694

2003

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SRD5B1 (AKR1D1) gene analysis in Δ4-3-oxosteroid 5β-reductase deficiency: evidence for primary genetic defect

Journal of hepatology, 2004-04, Vol.40 (4), p.716-718

2004

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SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: evidence for primary genetic defect

Journal of hepatology, 2004-04, Vol.40 (4), p.716

2004

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SRD5B1 (AKR1D1) gene analysis in Δ 4-3-oxosteroid 5β-reductase deficiency: evidence for primary genetic defect

Journal of hepatology, 2004, Vol.40 (4), p.716-718

2004

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Complete Genomic Structure and Mutational Spectrum of PHKA2 in Patients with X-Linked Liver Glycogenosis Type I and II

American journal of human genetics, 1999-06, Vol.64 (6), p.1541-1549

1999

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Simple, rapid nonradioactive method to detect the three most prevalent hereditary fructose intolerance mutations

Clinical chemistry (Baltimore, Md.), 1998-05, Vol.44 (5), p.1041-1043

1998

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Alterations in erythrocyte membrane fluidity and fatty acid composition in glycogen storage disease

Biochimica et biophysica acta, 1996-01, Vol.1315 (1), p.61-65

1996

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Biochemical diagnosis of hepatic glycogen storage diseases: 20 years French experience

Clinical biochemistry, 1991-04, Vol.24 (2), p.169-178

1991

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Blood lipids and rheological modifications in glycogen storage disease

Clinical biochemistry, 1996-02, Vol.29 (1), p.73-78

1996

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X-linked liver glycogenosis: localization and isolation of a candidate gene

Human molecular genetics, 1993-05, Vol.2 (5), p.583-589

1993

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SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: evidence for primary genetic defect

Journal of hepatology, 2004, Vol.40 (4), p.716-718

2004

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Progressive familial intrahepatic cholestasis

The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects

ATP8B1 and ABCB11 analysis in 62 children with normal gamma‐glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): Phenotypic differences between PFIC1 and PFIC2 and natural history

Successful Treatment of Severe Cardiomyopathy in Glycogen Storage Disease Type III With D,L-3-Hydroxybutyrate, Ketogenic and High-Protein Diet

CFC1 Gene Involvement in Biliary Atresia With Polysplenia Syndrome

Liver glycogen storage diseases due to phosphorylase system deficiencies: Diagnosis thanks to non invasive blood enzymatic and molecular studies

Liver diseases related to MDR3 (ABCB4) gene deficiency

Acute but transient neurological deterioration revealing adult polyglucosan body disease

Prenatal Molecular Diagnosis of Inherited Cholestatic Diseases

Hereditary fructose intolerance: Frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France—Identification of eight new mutations

Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III

A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis

Progressive familial intrahepatic cholestasis type 3 revealed by oral contraceptive pills

SRD5B1 (AKR1D1) gene analysis in Δ4-3-oxosteroid 5β-reductase deficiency: evidence for primary genetic defect

SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: evidence for primary genetic defect

SRD5B1 (AKR1D1) gene analysis in Δ 4-3-oxosteroid 5β-reductase deficiency: evidence for primary genetic defect

Complete Genomic Structure and Mutational Spectrum of PHKA2 in Patients with X-Linked Liver Glycogenosis Type I and II

Simple, rapid nonradioactive method to detect the three most prevalent hereditary fructose intolerance mutations

Alterations in erythrocyte membrane fluidity and fatty acid composition in glycogen storage disease

Biochemical diagnosis of hepatic glycogen storage diseases: 20 years French experience

Blood lipids and rheological modifications in glycogen storage disease

X-linked liver glycogenosis: localization and isolation of a candidate gene

SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: evidence for primary genetic defect

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