Familial homocystinuria

Fareena Bilwani; Nadir Ali Syed; Mohammed Usman; Mohammed Khurshid

Familial homocystinuria

Fareena Bilwani, Nadir Ali Syed, Mohammed Usman, Mohammed Khurshid

Section of Haematology/Oncology, Department of Medicine, Medical College, Pakistan

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

Abstract

Two cases of siblings diagnosed as cases of familial homocystinuria are reported. Both the cases have classical presentation of familial homocystinuria including history of dislocation of lens of the right eye. Brother had history of psychomotor retardation while sister had a significant history of deep vein thrombosis. Levels of plasma homocysteine were elevated and urinary homocysteine was positive in both the cases.

Original language	English
Pages (from-to)	106-107
Number of pages	2
Journal	Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
Volume	15
Issue number	2
Publication status	Published - Feb 2005

Keywords

Cystathione-β synthase
Familial homocystinuria
Homocysteine
N-methyl tetrahydrofolate reductase

Cite this

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title = "Familial homocystinuria",

abstract = "Two cases of siblings diagnosed as cases of familial homocystinuria are reported. Both the cases have classical presentation of familial homocystinuria including history of dislocation of lens of the right eye. Brother had history of psychomotor retardation while sister had a significant history of deep vein thrombosis. Levels of plasma homocysteine were elevated and urinary homocysteine was positive in both the cases.",

keywords = "Cystathione-β synthase, Familial homocystinuria, Homocysteine, N-methyl tetrahydrofolate reductase",

author = "Fareena Bilwani and Syed, {Nadir Ali} and Mohammed Usman and Mohammed Khurshid",

year = "2005",

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T1 - Familial homocystinuria

AU - Bilwani, Fareena

AU - Syed, Nadir Ali

AU - Usman, Mohammed

AU - Khurshid, Mohammed

PY - 2005/2

Y1 - 2005/2

N2 - Two cases of siblings diagnosed as cases of familial homocystinuria are reported. Both the cases have classical presentation of familial homocystinuria including history of dislocation of lens of the right eye. Brother had history of psychomotor retardation while sister had a significant history of deep vein thrombosis. Levels of plasma homocysteine were elevated and urinary homocysteine was positive in both the cases.

AB - Two cases of siblings diagnosed as cases of familial homocystinuria are reported. Both the cases have classical presentation of familial homocystinuria including history of dislocation of lens of the right eye. Brother had history of psychomotor retardation while sister had a significant history of deep vein thrombosis. Levels of plasma homocysteine were elevated and urinary homocysteine was positive in both the cases.

KW - Cystathione-β synthase

KW - Familial homocystinuria

KW - Homocysteine

KW - N-methyl tetrahydrofolate reductase

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AN - SCOPUS:17444364482

SN - 1022-386X

VL - 15

SP - 106

EP - 107

JO - Journal of the College of Physicians and Surgeons--Pakistan : JCPSP

JF - Journal of the College of Physicians and Surgeons--Pakistan : JCPSP

IS - 2

ER -

Familial homocystinuria

Abstract

Keywords

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