Literature DB >> 10896288

Osteoporosis in late-diagnosed adult homocystinuric patients.

F Parrot1, I Redonnet-Vernhet, D Lacombe, H Gin.   

Abstract

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Year:  2000        PMID： 10896288     DOI： 10.1023/a:1005618927729

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  3 in total

1.  The natural history of homocystinuria due to cystathionine beta-synthase deficiency.

Authors:  S H Mudd; F Skovby; H L Levy; K D Pettigrew; B Wilcken; R E Pyeritz; G Andria; G H Boers; I L Bromberg; R Cerone
Journal:  Am J Hum Genet       Date:  1985-01       Impact factor: 11.025

2.  Homocystinuria due to cystathionine beta-synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control.

Authors:  S Yap; E Naughten
Journal:  J Inherit Metab Dis       Date:  1998-10       Impact factor: 4.982

3.  Evidence for McKusick's hypothesis of deficient collagen cross-linking in patients with homocystinuria.

Authors:  B Lubec; S Fang-Kircher; T Lubec; H J Blom; G H Boers
Journal:  Biochim Biophys Acta       Date:  1996-04-12
  3 in total
  10 in total

1.  Low bone mineral density is a common finding in patients with homocystinuria.

Authors:  David R Weber; Curtis Coughlin; Jill L Brodsky; Kristin Lindstrom; Can Ficicioglu; Paige Kaplan; Cynthia L Freehauf; Michael A Levine
Journal:  Mol Genet Metab       Date:  2015-12-10       Impact factor: 4.797

2.  Body composition in young adults with inborn errors of protein metabolism--a pilot study.

Authors:  G Wilcox; B J G Strauss; D E M Francis; H Upton; A Boneh
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

Review 3.  Vascular complications of cystathionine β-synthase deficiency: future directions for homocysteine-to-hydrogen sulfide research.

Authors:  Richard S Beard; Shawn E Bearden
Journal:  Am J Physiol Heart Circ Physiol       Date:  2010-10-22       Impact factor: 4.733

4.  Enzyme replacement prevents neonatal death, liver damage, and osteoporosis in murine homocystinuria.

Authors:  Tomas Majtan; Helena Hůlková; Insun Park; Jakub Krijt; Viktor Kožich; Erez M Bublil; Jan P Kraus
Journal:  FASEB J       Date:  2017-08-16       Impact factor: 5.191

5.  Behavior, body composition, and vascular phenotype of homocystinuric mice on methionine-restricted diet or enzyme replacement therapy.

Authors:  Tomas Majtan; Insun Park; Allaura Cox; Brian R Branchford; Jorge di Paola; Erez M Bublil; Jan P Kraus
Journal:  FASEB J       Date:  2019-08-26       Impact factor: 5.191

Review 6.  Cystathionine β-synthase deficiency: Of mice and men.

Authors:  Warren D Kruger
Journal:  Mol Genet Metab       Date:  2017-05-19       Impact factor: 4.797

7.  Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria.

Authors:  Tomas Majtan; Wendell Jones; Jakub Krijt; Insun Park; Warren D Kruger; Viktor Kožich; Steven Bassnett; Erez M Bublil; Jan P Kraus
Journal:  Mol Ther       Date:  2017-12-19       Impact factor: 11.454

8.  Changes in bone mineral density and body composition of children with well-controlled homocystinuria caused by CBS deficiency.

Authors:  J S Lim; D H Lee
Journal:  Osteoporos Int       Date:  2013-05-18       Impact factor: 4.507

Review 9.  Osteoporosis and cardiovascular disease: brittle bones and boned arteries, is there a link?

Authors:  Samy I McFarlane; Ranganath Muniyappa; John J Shin; Gul Bahtiyar; James R Sowers
Journal:  Endocrine       Date:  2004-02       Impact factor: 3.633

10.  Chemical and biomechanical characterization of hyperhomocysteinemic bone disease in an animal model.

Authors:  Priscilla G Massé; Adele L Boskey; Israel Ziv; Peter Hauschka; Sharon M Donovan; David S Howell; David E C Cole
Journal:  BMC Musculoskelet Disord       Date:  2003-02-20       Impact factor: 2.362
  10 in total

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