Two successful pregnancies in pyridoxine-nonresponsive homocystinuria

Journal of Inherited Metabolic Disease

Volumn 27, Issue 6, 2004, Pages 775-777

  Vilaseca, M A ^a   Cuartero, M L ^b   Martinez de Salinas, M ^b   Lambruschini, N ^a   Pinto X ^a   Urreizti, R ^c   Balcells, S ^c   Grinberg, D ^c  

^a HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^b HOSPITAL SAN PEDRO   (Spain)

^c UNIVERSITY OF BARCELONA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ACETYLSALICYLIC ACID; BETAINE; CYSTEINE; CYTOSINE; FOLIC ACID; HEPARIN; HOMOCYSTEINE; METHIONINE; PYRIDOXINE; THYMINE;

ADULT; ANTICOAGULANT THERAPY; ARTICLE; CASE REPORT; DELIVERY; DIET THERAPY; DRUG RESPONSE; FEMALE; FETUS DEVELOPMENT; GENETIC POLYMORPHISM; HIGH RISK PATIENT; HOMOCYSTINURIA; HOMOZYGOSITY; HUMAN; MAINTENANCE THERAPY; PATIENT CARE; PREGNANCY; SPONTANEOUS ABORTION; THROMBOEMBOLISM;

ABORTION, SPONTANEOUS; ADULT; ANTICOAGULANTS; BETAINE; DIET, PROTEIN-RESTRICTED; FEMALE; GASTROINTESTINAL AGENTS; HOMOCYSTINURIA; HUMANS; METHIONINE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); POLYMORPHISM, GENETIC; PREGNANCY; PREGNANCY COMPLICATIONS; PYRIDOXINE;

EID: 7244247144     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000045840.18383.25     Document Type: Article

References (4)

1. Levy HL, Vargas JE, Waisbren SE, et al (2003) Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency. J Inherit Metab Dis 25: 299-314.
2. Urreizti R, Balcells S, Rodés M, et al (2003) Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S. Hum Mutat 22(1): 103. Human Mutation, Mutation in Brief No. 624. Online. DOI 10.1002/humu.9153).
3. Vilaseca MA, Moyano D, Ferrer I, Artuch R (1997) Total homocysteine in pediatric patients. Clin Chem 43: 690-692.
4. Yap S, Barry-Kinsella C, Naughten ER (2001) Maternal pyridoxine non-responsive homocystinuria: The role of dietary treatment and anticoagulation. BJOG 108: 425-428.