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Seminars in Liver Disease
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April 28, 2010
The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects
Anne Davit-Spraul, Emmanuel Gonzales, Christiane Baussan, et al.
Orphanet Journal of Rare Diseases
|
January 10, 2009
Progressive familial intrahepatic cholestasis
Anne Davit-Spraul, Emmanuel Gonzales, Christiane Baussan, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
December 29, 2007
CFC1 gene involvement in biliary atresia with polysplenia syndrome
Anne Davit-Spraul, Christiane Baussan, Bogdan Hermeziu, et al.
Frontiers in Bioscience (Landmark Edition)
|
March 11, 2009
Liver diseases related to MDR3 (ABCB4) gene deficiency
Emmanuel Gonzales, Anne Davit-Spraul, Christiane Baussan, et al.
Hepatology (Baltimore, Md.)
|
March 17, 2010
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
Anne Davit-Spraul, Monique Fabre, Sophie Branchereau, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
April 7, 2007
Prenatal molecular diagnosis of inherited cholestatic diseases
Camille Jung, Catherine Driancourt, Christiane Baussan, et al.
Molecular Genetics and Metabolism
|
June 8, 2011
Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies
Anne Davit-Spraul, Monique Piraud, Dries Dobbelaere, et al.
Molecular Genetics and Metabolism
|
June 11, 2008
Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations
Anne Davit-Spraul, Catherine Costa, Mokhtar Zater, et al.
Journal of the Neurological Sciences
|
November 14, 2012
Acute but transient neurological deterioration revealing adult polyglucosan body disease
Ségolène Billot, Dominique Hervé, Hasan O Akman, et al.
Neuromuscular Disorders : NMD
|
February 21, 2006
A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis
Pascal Laforêt, Pascale Richard, Mina Ait Said, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 12) with videos related to
Sort By:
Page
of 2
Seminars in Liver Disease
|
April 28, 2010
The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects
Anne Davit-Spraul, Emmanuel Gonzales, Christiane Baussan, et al.
Orphanet Journal of Rare Diseases
|
January 10, 2009
Progressive familial intrahepatic cholestasis
Anne Davit-Spraul, Emmanuel Gonzales, Christiane Baussan, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
December 29, 2007
CFC1 gene involvement in biliary atresia with polysplenia syndrome
Anne Davit-Spraul, Christiane Baussan, Bogdan Hermeziu, et al.
Frontiers in Bioscience (Landmark Edition)
|
March 11, 2009
Liver diseases related to MDR3 (ABCB4) gene deficiency
Emmanuel Gonzales, Anne Davit-Spraul, Christiane Baussan, et al.
Hepatology (Baltimore, Md.)
|
March 17, 2010
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
Anne Davit-Spraul, Monique Fabre, Sophie Branchereau, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
April 7, 2007
Prenatal molecular diagnosis of inherited cholestatic diseases
Camille Jung, Catherine Driancourt, Christiane Baussan, et al.
Molecular Genetics and Metabolism
|
June 8, 2011
Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies
Anne Davit-Spraul, Monique Piraud, Dries Dobbelaere, et al.
Molecular Genetics and Metabolism
|
June 11, 2008
Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations
Anne Davit-Spraul, Catherine Costa, Mokhtar Zater, et al.
Journal of the Neurological Sciences
|
November 14, 2012
Acute but transient neurological deterioration revealing adult polyglucosan body disease
Ségolène Billot, Dominique Hervé, Hasan O Akman, et al.
Neuromuscular Disorders : NMD
|
February 21, 2006
A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis
Pascal Laforêt, Pascale Richard, Mina Ait Said, et al.
Page
of 2