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Items: 1 to 20 of 67

1.

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

Maillot F, Kraus JP, Lee PJ.

J Med Case Rep. 2008 Apr 20;2:113. doi: 10.1186/1752-1947-2-113.

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
3.

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
5.

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
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
7.

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.

9.

Homocystinuria and psychiatric disorder: a case report.

Li SC, Stewart PM.

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

PMID:
10503267
10.

[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
11.

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
12.

[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
13.

Aspects of treatment of homocystinuria: an illustrative case report.

Pullon DH.

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

PMID:
3380397
14.

[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
15.

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
16.

Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria.

Kim CE, Gallagher PM, Guttormsen AB, Refsum H, Ueland PM, Ose L, Folling I, Whitehead AS, Tsai MY, Kruger WD.

Hum Mol Genet. 1997 Dec;6(13):2213-21.

PMID:
9361025
17.

Lens subluxation in homocystinuria. A case report.

Hayasaka S, Asano Y, Tateda H, Hoshi K, Koga Y.

Acta Ophthalmol (Copenh). 1984 Jun;62(3):425-31.

PMID:
6331704
18.

Homocystinuria presenting as multiple arterial occlusions.

Newman G, Mitchell JR.

Q J Med. 1984 Spring;53(210):251-8.

PMID:
6463198
19.

[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
20.

[Homocystinuria. A type with vascular thrombosis and factor VII deficiency].

Ben Dridi MF, Karoui S, Kastally R, Gharbi HA, Zaimi I, Ben Osman R.

Arch Fr Pediatr. 1986 Jan;43(1):41-4. French.

PMID:
3707277

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