Osteoporosis in late-diagnosed adult homocystinuric patients

Journal of Inherited Metabolic Disease

Volumn 23, Issue 4, 2000, Pages 338-340

  Parrot, F ^a   Redonnet Vernhet, I ^a   Lacombe, D ^a   Gin, H ^b  

^a HÔPITAL PELLEGRIN   (France)

^b Serv Nutr et Maladies Metaboliques   (France)

Author keywords

[No Author keywords available]

Indexed keywords

PYRIDOXINE;

ADULT; AUTOSOMAL RECESSIVE INHERITANCE; BONE DENSITY; BONE MINERAL; CLINICAL ARTICLE; CONFERENCE PAPER; CONNECTIVE TISSUE DISEASE; FEMALE; HOMOCYSTINURIA; HUMAN; MALE; MENTAL DEFICIENCY; OSTEOPOROSIS; THROMBOEMBOLISM;

ADULT; AGE OF ONSET; FEMALE; HOMOCYSTINURIA; HUMANS; MALE; MIDDLE AGED; OSTEOPOROSIS; TIME FACTORS;

EID: 0034120176     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005618927729     Document Type: Conference Paper

References (4)

1. Lubec B, Fang-Kircher S, Lubec T, Blom HJ, Boers GHJ (1996) Evidence for McKusick's hypothesis of deficient collagen cross-linking in patients with homocystinuria Biochim Biophys Acta 315: 159-162.
2. McKusick VA (1966) Heritable Disorders of Connective Tissue, 3rd edn. St Louis: Mosby, 155.
3. Mudd SH, Skovby F, Levy HL, et al (1985) The natural history of homocystinuria due to cystathionine-β-synthase deficiency. Am J Hum Genet 37: 1-31.
4. Yap S, Naughten E (1998) Homocystinuria due to cystathionine-β-synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control. J Inherit Metab Dis 21: 738-747.