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1:

Environmental influences on familial discordance of phenotype in people with homocystinuria: a case report.

Maillot F, Kraus JP, Lee PJ.

J Med Case Reports. 2008 Apr 20;2:113.

PMID: 18423051 [PubMed - in process]

2:

[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]

3:

Prophylactic Oophorectomy: Reducing the U.S. Death Rate from Epithelial Ovarian Cancer. A Continuing Debate.

Piver MS.

Oncologist. 1996;1(5):326-330.

PMID: 10388011 [PubMed - as supplied by publisher]

4:

[A rare and not very studied disorder: childhood-onset schizophrenia. A case report.]

Bailly D, de Chouly de Lenclave MB.

Encephale. 2004 Nov-Dec;30(6):540-7. French.

PMID: 15738856 [PubMed - indexed for MEDLINE]

5:

Pyridoxine-unresponsive homocystinuria with an unusual clinical course.

Cochran FB, Sweetman L, Schmidt K, Barsh G, Kraus J, Packman S.

Am J Med Genet. 1990 Apr;35(4):519-22.

PMID: 2333882 [PubMed - indexed for MEDLINE]

6:

The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.

Gaustadnes M, Wilcken B, Oliveriusova J, McGill J, Fletcher J, Kraus JP, Wilcken DE.

Hum Mutat. 2002 Aug;20(2):117-26.

PMID: 12124992 [PubMed - indexed for MEDLINE]

7:

Homocystinuria treated with pyridoxine.

Blika S, Saunte E, Lunde H, Gjessing LR, Ringvold A.

Acta Ophthalmol (Copenh). 1982 Dec;60(6):894-906.

PMID: 6984997 [PubMed - indexed for MEDLINE]

9:

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]

10:

A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.

Shih VE, Fringer JM, Mandell R, Kraus JP, Berry GT, Heidenreich RA, Korson MS, Levy HL, Ramesh V.

Am J Hum Genet. 1995 Jul;57(1):34-9.

PMID: 7611293 [PubMed - indexed for MEDLINE]

11:

Homocystinuria and psychiatric disorder: a case report.

Li SC, Stewart PM.

Pathology. 1999 Aug;31(3):221-4.

PMID: 10503267 [PubMed - indexed for MEDLINE]

12:

Ocular findings among patients with late-diagnosed or poorly controlled homocystinuria compared with a screened, well-controlled population.

Mulvihill A, Yap S, O'Keefe M, Howard PM, Naughten ER.

J AAPOS. 2001 Oct;5(5):311-5.

PMID: 11641642 [PubMed - indexed for MEDLINE]

13:

Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria.

De Franchis R, Sperandeo MP, Sebastio G, Andria G.

Eur J Pediatr. 1998 Apr;157 Suppl 2:S67-70. Review.

PMID: 9587029 [PubMed - indexed for MEDLINE]

14:

Management of ophthalmic complications of homocystinuria.

Harrison DA, Mullaney PB, Mesfer SA, Awad AH, Dhindsa H.

Ophthalmology. 1998 Oct;105(10):1886-90.

PMID: 9787359 [PubMed - indexed for MEDLINE]

15:

[Homocystinuria: effectiveness of the treatment with pyridoxine, folic acid, and betaine]

Montero Brens C, Dalmau Serra J, Cabello Tomás ML, García Gómez AM, Rodes Monegal M, Vilaseca Busca A.

An Esp Pediatr. 1993 Jul;39(1):37-41. Spanish.

PMID: 8363149 [PubMed - indexed for MEDLINE]

16:

Aspects of treatment of homocystinuria: an illustrative case report.

Pullon DH.

N Z Med J. 1988 Jan 27;101(838):10-1.

PMID: 3380397 [PubMed - indexed for MEDLINE]

17:

[Delayed diagnosis of homocystinuria by major deficiency in cystathionine beta synthase]

Tur MD, De Maistre E, Franck P, Rolland MO, Fremont S, Lecompte T, Vidailhet M.

Rev Med Interne. 2004 Feb;25(2):150-3. French.

PMID: 14744647 [PubMed - indexed for MEDLINE]

18:

Homocystinuria presenting as psychosis in an adolescent.

Ryan MM, Sidhu RK, Alexander J, Megerian JT.

J Child Neurol. 2002 Nov;17(11):859-60.

PMID: 12585732 [PubMed - indexed for MEDLINE]

19:

[2 familial cases of homocystinuria one of which revealed by fatal hypertensive encephalopathy]

Pousse H, Ayachi R, Essoussi AS, el May A, el Amri H.

Ann Pediatr (Paris). 1990 Mar;37(3):189-92. French.

PMID: 2350147 [PubMed - indexed for MEDLINE]

20:

Homocystinuria--the effects of betaine in the treatment of patients not responsive to pyridoxine.

Wilcken DE, Wilcken B, Dudman NP, Tyrrell PA.

N Engl J Med. 1983 Aug 25;309(8):448-53.

PMID: 6877313 [PubMed - indexed for MEDLINE]

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