C. Baussan

发表

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

S. Abdelhak, L. Romdhane, F. Petit, 2013, Molecular Biology Reports.

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

B. Stieger, E. Jacquemin, C. Baussan, 2010, Hepatology.

Evaluation of FibroTest-ActiTest in children with chronic hepatitis C virus infection.

T. Poynard, M. Munteanu, D. Messous, 2010, Gastroenterologie clinique et biologique.

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

N. Romero, J. Hogrel, P. Laforêt, 2006, Neuromuscular Disorders.

Liver diseases related to MDR3 (ABCB4) gene deficiency.

E. Jacquemin, M. Maurice, C. Baussan, 2009, Frontiers in bioscience.

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

E. Jacquemin, C. Baussan, E. Gonzales, 2010, Seminars in liver disease.

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

A. Legrand, P. Thérond, C. Baussan, 1996, Biochimica et biophysica acta.

Prenatal Molecular Diagnosis of Inherited Cholestatic Diseases

M. Hadchouel, C. Jung, E. Jacquemin, 2007, Journal of pediatric gastroenterology and nutrition.

Genetic hypoglycaemia in infancy and childhood: Pathophysiology and diagnosis

D. Rabier, P. Kamoun, J. Saudubray, 2000, Journal of Inherited Metabolic Disease.

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

D. Rabier, F. Petit, C. Ottolenghi, 2011, Pediatric Research.

Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II.

M. Tuchman, P. Willems, J. Keating, 1999, American journal of human genetics.

Progressive familial intrahepatic cholestasis type 3 revealed by oral contraceptive pills.

N. Ganne-Carrié, E. Jacquemin, J. Gaudelus, 2003, Journal of hepatology.

Type Ib glycogen storage disease: an in vivo and in vitro study of two cases.

M. Brivet, N. Moatti, C. Baussan, 1984, Journal of inherited metabolic disease.

Blood lipids and rheological modifications in glycogen storage disease.

A. Simon, J. Levenson, A. Legrand, 1996, Clinical biochemistry.

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

N. Moatti, I. Maire, C. Baussan, 1991, Clinical biochemistry.

Progressive familial intrahepatic cholestasis

E. Jacquemin, C. Baussan, E. Gonzales, 2009, Orphanet journal of rare diseases.

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

J. Deleuze, J. M. Costa, M. Hadchouel, 1998, Clinical chemistry.

Determination of malonaldehyde in hyperlipemic sera.

C. Baussan, A. Lemonnier, K. Keddad, 1993, Clinical chemistry.

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

V. Valayannopoulos, E. Jacquemin, D. Dobbelaere, 2011, Molecular genetics and metabolism.

CFC1 Gene Involvement in Biliary Atresia With Polysplenia Syndrome

E. Jacquemin, C. Baussan, O. Bernard, 2008, Journal of pediatric gastroenterology and nutrition.

Genetic cholestatic liver diseases: the example of progressive familial intrahepatic cholestasis and related disorders.

M. Hadchouel, E. Jacquemin, C. Baussan, 2004, Acta gastro-enterologica Belgica.

P0188 SRD5B1 (AKR1D1) GENE ANALYSIS IN DELTA4–3‐OXOSTEROID 5BETA‐REDUCTASE DEFICIENCY: EVIDENCE FOR PRIMARY GENETIC DEFECT

E. Jacquemin, C. Baussan, E. Gonzales, 2004, Journal of Pediatric Gastroenterology and Nutrition.

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

E. Jacquemin, C. Baussan, E. Gonzales, 2004 .

Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations.

C. Baussan, F. Feillet, P. Labrune, 2008, Molecular genetics and metabolism.

Acute but transient neurological deterioration revealing adult polyglucosan body disease

F. Sedel, K. Claeys, P. Laforêt, 2013, Journal of the Neurological Sciences.

Use of platelets, mononuclear and polymorphonuclear cells in the diagnosis of glycogen storage disease type VI

N. Moatti, C. Baussan, A. Lemonnier, 1988, Journal of Inherited Metabolic Disease.

Liver glycogenosis caused by a defective phosphorylase system: hemolysate analysis.

N. Moatti, C. Baussan, M. Odiévre, 1981, Pediatrics.

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

S. Abdelhak, L. Romdhane, F. Petit, 2013, Molecular Biology Reports.

Decreased erythrocyte deformability in glycogen storage disease.

A. Simon, J. Levenson, A. Legrand, 1996, Thrombosis research.

AUTOIMMUNE, CHOLESTATIC AND BILIARY DISEASE 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

B. Stieger, E. Jacquemin, C. Baussan, 2010 .