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Results: 1 to 20 of 103

1.

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

Lim JS, Lee DH.

Osteoporos Int. 2013 Sep;24(9):2535-8. doi: 10.1007/s00198-013-2351-4. Epub 2013 May 18.

PMID:
23685761
[PubMed - indexed for MEDLINE]
2.

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

Mudd SH, Skovby F, Levy HL, Pettigrew KD, Wilcken B, Pyeritz RE, Andria G, Boers GH, Bromberg IL, Cerone R, et al.

Am J Hum Genet. 1985 Jan;37(1):1-31.

PMID:
3872065
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment.

Kluijtmans LA, Boers GH, Kraus JP, van den Heuvel LP, Cruysberg JR, Trijbels FJ, Blom HJ.

Am J Hum Genet. 1999 Jul;65(1):59-67.

PMID:
10364517
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria.

Dawson PA, Cox AJ, Emmerson BT, Dudman NP, Kraus JP, Gordon RB.

Eur J Hum Genet. 1997 Jan-Feb;5(1):15-21.

PMID:
9156316
[PubMed - indexed for MEDLINE]
5.

Body composition in patients with classical homocystinuria: body mass relates to homocysteine and choline metabolism.

Poloni S, Leistner-Segal S, Bandeira IC, D'Almeida V, de Souza CF, Spritzer PM, Castro K, Tonon T, Nalin T, Imbard A, Blom HJ, Schwartz IV.

Gene. 2014 Aug 10;546(2):443-7. doi: 10.1016/j.gene.2014.05.015. Epub 2014 May 6.

PMID:
24815046
[PubMed - indexed for MEDLINE]
6.

Homocystinuria: pathogenetic mechanisms.

Grieco AJ.

Am J Med Sci. 1977 Mar-Apr;273(2):120-32. Review.

PMID:
324277
[PubMed - indexed for MEDLINE]
7.

Lumbar spine bone mineral density in US adults: demographic patterns and relationship with femur neck skeletal status.

Looker AC, Melton LJ 3rd, Borrud LG, Shepherd JA.

Osteoporos Int. 2012 Apr;23(4):1351-60. doi: 10.1007/s00198-011-1693-z. Epub 2011 Jul 1.

PMID:
21720893
[PubMed - indexed for MEDLINE]
8.

The impact of idiopathic childhood-onset growth hormone deficiency (GHD) on bone mass in subjects without adult GHD.

Lange M, Müller J, Svendsen OL, Kastrup KW, Juul A, Feldt-Rasmussen U.

Clin Endocrinol (Oxf). 2005 Jan;62(1):18-23.

PMID:
15638865
[PubMed - indexed for MEDLINE]
9.

[Cystathionine betasynthase and MTHFR deficiencies in adults].

Cohen Aubart F, Sedel F, Papo T.

Rev Neurol (Paris). 2007 Oct;163(10):904-10. Review. French.

PMID:
18033026
[PubMed - indexed for MEDLINE]
10.

[Clinical picture of homocystinuria with cystathionine beta-synthase deficiency in 19 Czech and Slovak patients].

Orendác M, Kozich V, Zeman J, Hyánek J, Bzdúch V, Misovicová N, Marklová E, Vad'urová L, Pijácková A.

Cas Lek Cesk. 2000 Aug 16;139(16):500-7. Czech.

PMID:
11338767
[PubMed - indexed for MEDLINE]
11.

A case of homocystinuria due to CBS gene mutations revealed by cerebral venous thrombosis.

Sarov M, Not A, de Baulny HO, Masnou P, Vahedi K, Bousser MG, Denier C.

J Neurol Sci. 2014 Jan 15;336(1-2):257-9. doi: 10.1016/j.jns.2013.10.009. Epub 2013 Oct 11.

PMID:
24169224
[PubMed - indexed for MEDLINE]
12.

[Homocystinuria--biochemical, clinical and genetic aspects].

Borota J, Milosević-Tosić M, Katanić D.

Med Pregl. 1997 May-Jun;50(5-6):187-93. Review. Croatian.

PMID:
9297049
[PubMed - indexed for MEDLINE]
13.

[A case report of pyridoxine-responsive homocystinuria].

Milosević-Tosić M, Borota J, Katanić D, Vlaski J.

Med Pregl. 1999 Nov-Dec;52(11-12):501-4. Croatian.

PMID:
10748775
[PubMed - indexed for MEDLINE]
14.

Risk factors for osteoporosis in long-term survivors of intracranial germ cell tumors.

Kang MJ, Kim SM, Lee YA, Shin CH, Yang SW, Lim JS.

Osteoporos Int. 2012 Jul;23(7):1921-9. doi: 10.1007/s00198-011-1821-9. Epub 2011 Nov 5.

PMID:
22057549
[PubMed - indexed for MEDLINE]
15.

Changes in bone mineral density, body composition and biochemical markers of bone turnover during weight gain in adolescents with severe anorexia nervosa: a 1-year prospective study.

Compston JE, McConachie C, Stott C, Hannon RA, Kaptoge S, Debiram I, Love S, Jaffa A.

Osteoporos Int. 2006 Jan;17(1):77-84. Epub 2005 May 12.

PMID:
15889315
[PubMed - indexed for MEDLINE]
16.

Recombinant adeno-associated virus mediated gene transfer in a mouse model for homocystinuria.

Park ES, Oh HJ, Kruger WD, Jung SC, Lee JS.

Exp Mol Med. 2006 Dec 31;38(6):652-61.

PMID:
17202841
[PubMed - indexed for MEDLINE]
Free Article
17.

Vascular complications of severe hyperhomocysteinemia in patients with homocystinuria due to cystathionine beta-synthase deficiency: effects of homocysteine-lowering therapy.

Yap S, Naughten ER, Wilcken B, Wilcken DE, Boers GH.

Semin Thromb Hemost. 2000;26(3):335-40. Review.

PMID:
11011851
[PubMed - indexed for MEDLINE]
18.

Development of bone mineral density at the lumbar spine and femoral neck in juvenile chronic arthritis--a prospective one year followup study.

Kotaniemi A, Savolainen A, Kröger H, Kautiainen H, Isomäki H.

J Rheumatol. 1998 Dec;25(12):2450-5.

PMID:
9858444
[PubMed - indexed for MEDLINE]
19.

[Homocystinuria in adulthood].

Quéré I, Simorre B, Ruivard M, Le Hello C, Parrot F, Mégnien JL, Touati G, Chassé JF, Saudubray JM, Zittoun J.

Rev Med Interne. 2001 Dec;22 Suppl 3:347s-355s. Review. French.

PMID:
11794879
[PubMed - indexed for MEDLINE]
20.

Effect of supervised and home exercise training on bone mineral density among breast cancer patients. A 12-month randomised controlled trial.

Saarto T, Sievänen H, Kellokumpu-Lehtinen P, Nikander R, Vehmanen L, Huovinen R, Kautiainen H, Järvenpää S, Penttinen HM, Utriainen M, Jääskeläinen AS, Elme A, Ruohola J, Palva T, Vertio H, Rautalahti M, Fogelholm M, Luoto R, Blomqvist C.

Osteoporos Int. 2012 May;23(5):1601-12. doi: 10.1007/s00198-011-1761-4. Epub 2011 Sep 3.

PMID:
21892676
[PubMed - indexed for MEDLINE]

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