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1.
Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical Laboratory.
Clin Chem
; 68(2): 313-321, 2022 02 01.
Article
in English
| MEDLINE | ID: mdl-34871369
2.
Pharmacological Premature Termination Codon Readthrough of ABCB11 in Bile Salt Export Pump Deficiency: An In Vitro Study.
Hepatology
; 73(4): 1449-1463, 2021 04.
Article
in English
| MEDLINE | ID: mdl-32702170
3.
Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia.
Mol Genet Metab
; 132(1): 38-43, 2021 01.
Article
in English
| MEDLINE | ID: mdl-33309011
4.
TGR5-dependent hepatoprotection through the regulation of biliary epithelium barrier function.
Gut
; 69(1): 146-157, 2020 01.
Article
in English
| MEDLINE | ID: mdl-30723104
5.
Functional rescue of an ABCB11 mutant by ivacaftor: A new targeted pharmacotherapy approach in bile salt export pump deficiency.
Liver Int
; 40(8): 1917-1925, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32433800
6.
Failure of cholic acid therapy in a child with a bile acid synthesis defect and harboring plectin mutations.
J Pediatr Gastroenterol Nutr
; 78(5): 1203-1204, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38426803
7.
MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease.
Hepatology
; 65(1): 164-173, 2017 01.
Article
in English
| MEDLINE | ID: mdl-27532546
8.
A functional classification of ABCB4 variations causing progressive familial intrahepatic cholestasis type 3.
Hepatology
; 63(5): 1620-31, 2016 May.
Article
in English
| MEDLINE | ID: mdl-26474921
9.
Bile Acid Synthesis Disorders in Arabs: A 10-year Screening Study.
J Pediatr Gastroenterol Nutr
; 65(6): 613-620, 2017 12.
Article
in English
| MEDLINE | ID: mdl-28902093
10.
Targeted pharmacotherapy in progressive familial intrahepatic cholestasis type 2: Evidence for improvement of cholestasis with 4-phenylbutyrate.
Hepatology
; 62(2): 558-66, 2015 Aug.
Article
in English
| MEDLINE | ID: mdl-25716872
11.
MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion disease.
Hepatology
; 60(1): 301-10, 2014 Jul.
Article
in English
| MEDLINE | ID: mdl-24375397
12.
A Novel CFC1 Mutation in a Family With Heterotaxy and Biliary Atresia Splenic Malformation Syndromes.
J Pediatr Gastroenterol Nutr
; 70(1): e24-e25, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31633655
13.
Liver transcript analysis reveals aberrant splicing due to silent and intronic variations in the ABCB11 gene.
Mol Genet Metab
; 113(3): 225-9, 2014 Nov.
Article
in English
| MEDLINE | ID: mdl-25085279
14.
∆4-3-oxo-5ß-reductase deficiency: favorable outcome in 16 patients treated with cholic acid.
Orphanet J Rare Dis
; 18(1): 383, 2023 Dec 07.
Article
in English
| MEDLINE | ID: mdl-38062451
15.
Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy.
JHEP Rep
; 5(10): 100844, 2023 Oct.
Article
in English
| MEDLINE | ID: mdl-37701337
16.
Successful mutation-specific chaperone therapy with 4-phenylbutyrate in a child with progressive familial intrahepatic cholestasis type 2.
J Hepatol
; 57(3): 695-8, 2012 Sep.
Article
in English
| MEDLINE | ID: mdl-22609309
17.
Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.
Mol Genet Metab
; 104(1-2): 137-43, 2011.
Article
in English
| MEDLINE | ID: mdl-21646031
18.
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
; 51(5): 1645-55, 2010 May.
Article
in English
| MEDLINE | ID: mdl-20232290
19.
The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects.
Semin Liver Dis
; 30(2): 134-46, 2010 May.
Article
in English
| MEDLINE | ID: mdl-20422496
20.
Relapsing features of bile salt export pump deficiency after liver transplantation in two patients with progressive familial intrahepatic cholestasis type 2.
J Hepatol
; 53(5): 981-6, 2010 Nov.
Article
in English
| MEDLINE | ID: mdl-20800306