Associated Papers
Pancreatitis Is an Emerging Rare Complication of Classic Homocystinuria: A Case Series and Literature Review.
Aljaberi R et al.
American Journal of Medical Genetics. Part A, 2026
Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases.
Weber Hoss GR et al.
Molecular Genetics & Genomic Medicine, 2020
32232970 (PubMed )
Supplement: MGG3-8-e1214-s001.docx
The Spectrum of Mutations of Homocystinuria in the MENA Region.
Al-Sadeq DW et al.
Genes, 2020
A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase.
Sun S et al.
Genome Medicine, 2020
32000841 (PubMed )
Supplement: 13073_2020_711_MOESM1_ESM.xlsx › Table_S1
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants.
Kasak L et al.
Human Mutation, 2019
Severe Crohn's Disease Manifestations in a Child with Cystathionine β-Synthase Deficiency.
Alsahli S et al.
Acg Case Reports Journal, 2018
Neurodevelopmental and Cognitive Outcomes of Classical Homocystinuria: Experience from Qatar.
El Bashir H et al.
Jimd Reports, 2015
High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.
Karaca M et al.
Gene, 2014
Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria.
Zaidi SH et al.
Clinical Genetics, 2012
Surrogate genetics and metabolic profiling for characterization of human disease alleles.
Mayfield JA et al.
Genetics, 2012
Hypermethioninemias of genetic and non-genetic origin: A review.
Mudd SH
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2011
Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards.
Gan-Schreier H et al.
The Journal of Pediatrics, 2010
Molecular neonatal screening for homocystinuria in the Qatari population.
Zschocke J et al.
Human Mutation, 2009
Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria.
Katsushima F et al.
Molecular Genetics and Metabolism, 2006
Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.
Lee SJ et al.
Journal of Human Genetics, 2005
The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.
Gaustadnes M et al.
Human Mutation, 2002
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