Hyperhomocysteinaemia; with reference to its neuroradiological aspects

The Metabolic Basis of Inherited Disease.

1988 • 7,933 citations

Hyperhomocysteinemia: An Independent Risk Factor for Vascular Disease

1991 • 2,191 citations

A Prospective Study of Plasma Homocyst(e)ine and Risk of Myocardial Infarction in US Physicians

1992 • 1,686 citations

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

1985 • 1,251 citations

Disorders of transsulfuration

1989 • 1,053 citations

Endothelial cell injury due to copper-catalyzed hydrogen peroxide generation from homocysteine.

1986 • 826 citations

Heterozygosity for Homocystinuria in Premature Peripheral and Cerebral Occlusive Arterial Disease

1985 • 739 citations

Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary artery disease.

1991 • 615 citations

Plasma homocysteine, a risk factor for vascular disease: plasma levels in health, disease, and drug therapy.

1989 • 615 citations

Metabolic Abnormalities Detected in a Survey of Mentally Backward Individuals in Northern Ireland

1962 • 494 citations

Elevation of total homocysteine in the serum of patients with cobalamin or folate deficiency detected by capillary gas chromatography-mass spectrometry.

1988 • 479 citations

Elevated plasma homocyst(e)ine concentration as a possible independent risk factor for stroke.

1990 • 311 citations

THE METHYL FOLATE TRAP A physiological response in man to prevent methyl group deficiency in kwashiorkor (methionine deficiency) and an explanation for folic-acid-induced exacerbation of subacute combined degeneration in pernicious anaemia

1981 • 266 citations

Hyperhomocysteinaemia in stroke: prevalence, cause, and relationships to type of stroke and stroke risk factors

1992 • 261 citations

Parkinson plus syndrome: diagnosis using high field MR imaging of brain iron.

1986 • 258 citations

Greenfield's Neuropathology

1993 • 253 citations

PATHOGENESIS OF SUBACUTE COMBINED DEGENERATION: A RESULT OF METHYL GROUP DEFICIENCY

1981 • 248 citations

Effect of sulfinpyrazone on homocysteine-induced endothelial injury and arteriosclerosis in baboons.

1983 • 241 citations

Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyl-transfer pathway

1991 • 235 citations

Homocystinuria associated with decreased methylenetetrahydrofolate reductase activity

1972 • 232 citations

Study of movement disorders and brain iron by MR

1987 • 210 citations

Folic acid lowers elevated plasma homocysteine in chronic renal insufficiency: Possible implications for prevention of vascular disease

1988 • 197 citations

Homocystinuria

1965 • 191 citations

Treatment of mild hyperhomocysteinemia in vascular disease patients.

1994 • 186 citations

Increased levels of plasma homocysteine are associated with nephropathy, but not severe retinopathy in type 1 diabetes mellitus

1991 • 141 citations

Intermediate hyperhomocysteinemia resulting from compound heterozygosity of methylenetetrahydrofolate reductase mutations.

1991 • 128 citations

Inherited Defects of Vitamin B Metabolism

1987 • 128 citations

Hyperhomocyst(e)inaemia: an independent risk factor for intermittent claudication

1992 • 128 citations

Demyelination and decreased S ‐adenosylmethionine in 5.10‐methylenetetrahydrofolate reductase deficiency

1988 • 122 citations

Morphologic Studies in a Patient with Homocystinuria due to 5,10-Methylenetetrahydrofolate Reductase Deficiency

1976 • 121 citations

Psychiatric manifestations of homocystinuria due to cystathionine β‐synthase deficiency: Prevalence, natural history, and relationship to neurologic impairment and vitamin B₆‐responsiveness

1987 • 118 citations

Methylation Deficiency Causes Vitamin B₁₂‐Associated Neuropathy in the Pig

1988 • 105 citations

Mendelian etiologies of stroke

1987 • 101 citations

Subacute combined degeneration of the cord, dementia and parkinsonism due to an inborn error of folate metabolism.

1986 • 100 citations

Hereditary Defect of Cobalamin Metabolism (CblGMutation) Presenting as a Neurologic Disorder in Adulthood

1988 • 100 citations

Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency

1984 • 98 citations

Improved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts

1985 • 92 citations

Homocystinuria

1977 • 88 citations

Homocystinuria

1966 • 88 citations

Homocystinuria due to 5,10-methylenetetra-hydrofolate reductase deficiency revealed by stroke in adult siblings

1991 • 86 citations

Inborn Errors of Folate Metabolism

1975 • 85 citations

Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG.

1988 • 84 citations

Cobalamin C Mutation (Methylmalonic Aciduria and Homocystinuria) in Adolescence

1984 • 80 citations

Mental Retardation, Megaloblastic Anaemia, Methylmalonic Aciduria and Abnormal Homocysteine Metabolism Due to an Error in Vitamin B12 Metabolism

1974 • 79 citations

Decreased Transmethylation of Biogenic Amines After In Vivo Elevation of Brain S‐Adenosyl‐<scp>l</scp>‐Homocysteine

1981 • 72 citations

An inborn error of vitamin B12 metabolism associated with cellular deficiency of coenzyme forms of the vitamin

1974 • 68 citations

Assignment of the gene for cystathionine ?-synthase to human chromosome 21 in somatic cell hybrids

1984 • 67 citations

Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers

1993 • 67 citations

Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria

1986 • 61 citations

Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency.

1989 • 61 citations

GENETIC AND BIOCHEMICAL ANALYSIS OF HUMAN COBALAMIN MUTANTS IN CELL CULTURE

1978 • 57 citations

Folic Acid Nonresponsive Homocystinuria Due to Methylenetetrahydrofolate Reductase Deficiency

1977 • 47 citations

Follow-up study of a nation-wide neonatal metabolic screening program in Japan

1984 • 46 citations

Homocystinuria

1965 • 46 citations

Arginase Deficiency in Macaca fascicularis. I. Arginase Activity and Arginine Concentration in Erythrocytes and in Liver

1972 • 45 citations

SPONGY DEGENERATION OF THE CENTRAL NERVOUS SYSTEM: CASE OF HOMOCYSTINURIA.

1965 • 45 citations

Homocystinuria Presenting as Sagittal Sinus Thrombosis

1992 • 41 citations

Inherited disorders of folate transport and metabolism

1989 • 37 citations

Dystonia in homocystinuria.

1988 • 33 citations

Neurodegenerative Diseases of Childhood

1991 • 32 citations

Hyperhomocysteinemia as a risk factor for stroke

1992 • 31 citations

Central and peripheral nervous system pathology of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency

1985 • 30 citations

Two sisters with generalized dystonia associated with homocystinuria

1991 • 30 citations

Functional and morphological deficits in late-treated patients with homocystinuria: a clinical, electrophysiologic and MRI study

1991 • 26 citations

Fast and slow depolarizations produced by substance P and other tachykinins in sympathetic neurons of rat prevertebral ganglia

1992 • 24 citations

Homocystinuria Clinical, Biochemical and Genetic Aspects of Cystathionine β‐synthase and its Deficiency in Man

1985 • 24 citations

Vascular lesions in two patients with congenital homocystinuria due to different defects of remethylation

1980 • 23 citations

Quasi-Moyamoya Disease and Heterozygosity for Homocystinuria in a Five-Year-Old Girl

1990 • 22 citations

Pathological findings in 5,10-methylene tetrahydrofolate reductase deficiency.

1987 • 21 citations

Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria

1992 • 18 citations

THE DETERMINATION OF PTERINS, BIOGENIC AMINE METABOLITES, AND AROMATIC AMINO ACIDS IN CEREBROSPINAL FLUID USING ISOCRATIC REVERSE PHASE LIQUID CHROMATOGRAPHY WITH IN SERIES DUAL CELL COULOMETRIC ELECTROCHEMICAL AND FLUORESCENCE DETECTION:- USE IN THE STUDY OF INBORN ERRORS OF DIHYDROPTERIDINE REDUCTASE AND 5,lO-METHYLENETETRAHYDROFOLATE REDUCTASE

1985 • 18 citations

Neurologic manifestations of homocystinuria

1981 • 16 citations

Homocystinuria with Epilepsy

1966 • 14 citations

Postoperative dystonia in a female patient with homocystinuria

1988 • 5 citations

Proconvulsive and convulsive properties of methionine, homocysteine and related compounds in mice

1988 • 3 citations