Latest papers

Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuria.

The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum.

Retinal dysfunction in combined methylmalonic aciduria and homocystinuria (Cblc) disease: a spectrum of disorders.

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.

Hypercoagulability due to homocystinuria in a case of head and neck reconstruction resolved with combined systemic therapy.

Gene identification for the cblD defect of vitamin B12 metabolism.

Commentary: Sibling trials in Banbridge, County Down.

Homocystinuria due to cystathionine beta synthase deficiency.

Cystathionine beta synthase deficiency induces catalase-mediated hydrogen peroxide detoxification in mice liver.

[Antimutagenes' protection action in human repair-defected cells].

Lenticular subluxation in a patient with homocystinuria undetected by neonatal screening.

Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder.

High incidence of hypermethioninaemia in a single neonatal intensive care unit detected by a newly introduced neonatal screening programme.

Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.

Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).

Polymorphic background of methionine synthase reductase modulates the phenotype of a disease-causing mutation.

[Cystathionine betasynthase and MTHFR deficiencies in adults].

[Nonatherosclerotic coronary artery disease].

Homocysteinemia may be equally important to stroke subtype in predicting cognition impairment.

The role of genetics in stroke.