HOMOCYSTINURIA. STUDIES OF 20 FAMILIES WITH 38 AFFECTED MEMBERS.
about
The hypermobility syndrome. Musculoskeletal complaints associated with generalized joint hypermobility.Total homocysteine and cardiovascular disease.Anterior dislocation of the lens in homocystinuria.Vitamins and bone health: beyond calcium and vitamin D.Diagnosis and treatment of hyperhomocysteinemia.Psychiatric manifestations of homocystinuria due to cystathionine beta-synthase deficiency: prevalence, natural history, and relationship to neurologic impairment and vitamin B6-responsiveness.Skeletal fingings in homocystinuria: a collaborative study.Phenylketonuria and its variations. A review of recent developmentsThe William Allan Memorial Award presented to Victor A. McKusick at the annual meeting of the American Society of Human Genetics.The growth and development of human genetics as a clinical discipline.Joint hypermobility--clinical aspects.Homocystine-induced arteriosclerosis. The role of endothelial cell injury and platelet response in its genesisHomocystinuria: a study with low-methionine diet in three patientsDietary treatment of homocystinuria.Treatment of homocystinuriaImportance of homocysteine-induced abnormalities of proteoglycan structure in arteriosclerosis.Hypermobility of the superior tibio-fibular jointsPsychiatric and biochemical aspects of a case of homocystinuriaPre-operative homocysteine levels and morbidity and mortality following cardiac surgery.Pupil-block glaucoma in homocystinuria.Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.Cor pulmonale as a complication of methylmalonic acidemia and homocystinuria (Cbl-C type).Homocysteine excess: delineating the possible mechanism of neurotoxicity and depression.Clinical manifestations of the Marfan syndrome.Recent studies on galactosaemia, phenylketonuria and homocystinuria.Genetic disorders presenting as "schizophrenia". Karl Bonhoeffer's early view of the psychoses in the light of medical genetics.Hyperhomocysteinemia and venous thrombosis.Homocystinuria and the passing of the one gene-one enzyme concept of disease.Joint hypermobility--asset or liability? A study of joint mobility in ballet dancers.Vascular pathology of homocysteinemia: implications for the pathogenesis of arteriosclerosis.Homocystinuria with epilepsy.Correction of endothelial dysfunction after selective homocysteine lowering gene therapy reduces arterial thrombogenicity but has no effect on atherogenesis.Homocysteine associated hypercoagulability and disseminated thrombosis--a case report.Atypical presentation of ectopia lentis in Marfan's syndrome.Congenital cataract, mental retardation and amino-aciduria. Amino-acid excretion determined by high-voltage electrophoresis in patients with mental retardation and congenital cataract.High-voltage electrophoresis in urinary amino acid screening.Isolated congenital ectopia lentis with autosomal dominant inheritance
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P2860
HOMOCYSTINURIA. STUDIES OF 20 FAMILIES WITH 38 AFFECTED MEMBERS.
description
1965 nî lūn-bûn
@nan
1965年の論文
@ja
1965年学术文章
@wuu
1965年学术文章
@zh
1965年学术文章
@zh-cn
1965年学术文章
@zh-hans
1965年学术文章
@zh-my
1965年学术文章
@zh-sg
1965年學術文章
@yue
1965年學術文章
@zh-hant
name
HOMOCYSTINURIA. STUDIES OF 20 FAMILIES WITH 38 AFFECTED MEMBERS.
@en
HOMOCYSTINURIA. STUDIES OF 20 FAMILIES WITH 38 AFFECTED MEMBERS.
@nl
type
label
HOMOCYSTINURIA. STUDIES OF 20 FAMILIES WITH 38 AFFECTED MEMBERS.
@en
HOMOCYSTINURIA. STUDIES OF 20 FAMILIES WITH 38 AFFECTED MEMBERS.
@nl
prefLabel
HOMOCYSTINURIA. STUDIES OF 20 FAMILIES WITH 38 AFFECTED MEMBERS.
@en
HOMOCYSTINURIA. STUDIES OF 20 FAMILIES WITH 38 AFFECTED MEMBERS.
@nl
P2093
P1476
HOMOCYSTINURIA. STUDIES OF 20 FAMILIES WITH 38 AFFECTED MEMBERS.
@en
P2093
A D POLLACK
R N SCHIMKE
V A MCKUSICK
P304
P356
10.1001/JAMA.1965.03090090017003
P407
P577
1965-08-01T00:00:00Z