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List of works by Martin Hrebicek

ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones.

scientific article

Bile acid metabolism in three patients with mevalonic aciduria due to mevalonate kinase deficiency

scientific article published on 01 August 1993

Bioinformatic and biochemical studies point to AAGR-1 as the ortholog of human acid alpha-glucosidase in Caenorhabditis elegans

scientific article published on 27 March 2010

Characterization of gana-1, a Caenorhabditis elegans gene encoding a single ortholog of vertebrate alpha-galactosidase and alpha-N-acetylgalactosaminidase

scientific article

Chitotriosidase, a chitinase, and the 39-kDa human cartilage glycoprotein, a chitin-binding lectin, are homologues of family 18 glycosyl hydrolases secreted by human macrophages

scientific article

Clinical spectrum in CADASIL family with a new mutation

scientific article published on 04 September 2013

Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver

scientific article

Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency.

scientific article

Dual hereditary jaundice: simultaneous occurrence of mutations causing Gilbert's and Dubin-Johnson syndrome.

scientific article published in July 2005

Effect of miglustat on bone disease in adults with type 1 Gaucher disease: a pooled analysis of three multinational, open-label studies.

scientific article published on August 2007

Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.

scientific article published in January 2001

Genetic and clinical features of patients with Gaucher disease in Hungary

scientific article published on 28 March 2007

HGSNAT has a TATA-less promoter with multiple starts of transcription.

scientific article published on 21 July 2016

Identification of novel informative loci for DNA-based X-inactivation analysis

scientific article published on 20 November 2014

Incorrect assignment of N370S mutation status by mismatched PCR/RFLP method in two Gaucher patients

scientific article published on 01 August 1997

Indel in the FIC1/ATP8B1 gene?a novel rare type of mutation associated with benign recurrent intrahepatic cholestasis

article

Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.

scientific article

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)

scientific article

Natural history of the respiratory involvement in Anderson-Fabry disease.

scientific article published on 9 July 2007

Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model.

scientific article

New polymorphic sites within ornithine transcarbamylase gene: population genetics studies and implications for diagnosis

scientific article

Novel mutations associated with metachromatic leukodystrophy: Phenotype and expression studies in nine Czech and Slovak patients

scientific article published on 01 September 2004

Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis

scientific article

Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years

scientific article

Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.

scientific article published on 7 February 2013

Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations.

scientific article

Recurrence of Fabry disease as a result of paternal germline mosaicism for α-galactosidase a gene mutation

article

Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population

article

Riboflavin-responsive epilepsy in a patient with SER209 variant form of short-chain acyl-CoA dehydrogenase

scientific article published on 01 January 1995

Rotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump

scientific article published on 01 May 2007

Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?

scientific article published on 26 June 2006

Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease.

scientific article published on January 2004

The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement

scientific article (publication date: 2003)

Transient expression of wild-type and mutant glucocerebrosidases in hybrid vaccinia expression system.

scientific article published on May 2003

Unusual presentation of Kelley-Seegmiller syndrome.

scientific article published in June 2008

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