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
The Spectrum of Mutations of Homocystinuria in the MENA Region.
Al-Sadeq DW et al.
Genes, 2020
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants.
Kasak L et al.
Human Mutation, 2019
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
Structural insights into pathogenic mutations in heme-dependent cystathionine-beta-synthase.
Yamanishi M et al.
Journal of Inorganic Biochemistry, 2006
Cystathionine beta-synthase mutations in homocystinuria.
Kraus JP et al.
Human Mutation, 1999
Biochemistry and molecular genetics of cystathionine beta-synthase deficiency.
Kraus JP
European Journal of Pediatrics, 1998
The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.
Sebastio G et al.
American Journal of Human Genetics, 1995
Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.
Marble M et al.
Human Molecular Genetics, 1994
Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system.
de Franchis R et al.
Human Molecular Genetics, 1994
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