(Q36669874)

15 August 2017

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title

Hyperhomocysteinaemia; with reference to its neuroradiological aspects (English)

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15 August 2017

M van den Berg

1

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15 August 2017

M S van der Knaap

2

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15 August 2017

G H Boers

3

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15 August 2017

C D Stehouwer

4

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15 August 2017

J A Rauwerda

5

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15 August 2017

J Valk

6

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15 August 2017

1 July 1995

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15 August 2017

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15 August 2017

37

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15 August 2017

5

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15 August 2017

403-411

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

15 August 2017

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12 December 2020

SPONGY DEGENERATION OF THE CENTRAL NERVOUS SYSTEM: CASE OF HOMOCYSTINURIA

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12 December 2020

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

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12 December 2020

Postoperative dystonia in a female patient with homocystinuria

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12 December 2020

Homocystinuria. A recently discovered cause of mental defect and cerebrovascular thrombosis.

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12 December 2020

Homocystinuria with Epilepsy

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12 December 2020

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

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12 December 2020

Psychiatric manifestations of homocystinuria due to cystathionine beta-synthase deficiency: prevalence, natural history, and relationship to neurologic impairment and vitamin B6-responsiveness

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12 December 2020

Pathogenesis of subacute combined degeneration: a result of methyl group deficiency

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Follow-up study of a nation-wide neonatal metabolic screening program in Japan. A collaborative study group of neonatal screening for inborn errors of metabolism in Japan

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Decreased Transmethylation of Biogenic Amines After In Vivo Elevation of Brain S‐Adenosyl‐l‐Homocysteine

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12 December 2020

Folic acid nonresponsive homocystinuria due to methylenetetrahydrofolate reductase deficiency

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12 December 2020

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

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12 December 2020

Neurologic manifestations of homocystinuria

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12 December 2020

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12 December 2020

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

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12 December 2020

Mental retardation, megaloblastic anaemia, methylmalonic aciduria and abnormal homocysteine metabolism due to an error in vitamin B12 metabolism.

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12 December 2020

Intermediate hyperhomocysteinemia resulting from compound heterozygosity of methylenetetrahydrofolate reductase mutations

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12 December 2020

Treatment of mild hyperhomocysteinemia in vascular disease patients

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12 December 2020

Genetic and biochemical analysis of human cobalamin mutants in cell culture

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12 December 2020

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

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12 December 2020

Methylation deficiency causes vitamin B12-associated neuropathy in the pig.

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12 December 2020

Mendelian etiologies of stroke

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12 December 2020

Quasi-moyamoya disease and heterozygosity for homocystinuria in a five-year-old girl

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Neurodegenerative diseases of childhood: MR and CT evaluation.

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12 December 2020

Demyelination and decreased S-adenosylmethionine in 5,10-methylenetetrahydrofolate reductase deficiency.

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12 December 2020

Homocystinuria and dystonia

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12 December 2020

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

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12 December 2020

Hereditary defect of cobalamin metabolism (cblG mutation) presenting as a neurologic disorder in adulthood

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12 December 2020

Cobalamin C mutation (methylmalonic aciduria and homocystinuria) in adolescence. A treatable cause of dementia and myelopathy

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12 December 2020

Two sisters with generalized dystonia associated with homocystinuria

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Prenatal diagnosis of 5,10-methylenetetrahydrofolate reductase deficiency

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12 December 2020

An inborn error of vitamin B12 metabolism associated with cellular deficiency of coenzyme forms of the vitamin. Pathological and neurochemical findings in one case.

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Homocystinuria. Clinical, biochemical and genetic aspects of cystathionine beta-synthase and its deficiency in man

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Study of movement disorders and brain iron by MR.

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12 December 2020

A prospective study of plasma homocyst(e)ine and risk of myocardial infarction in US physicians

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12 December 2020

Inherited defects of vitamin B12 metabolism

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12 December 2020

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

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12 December 2020

HOMOCYSTINURIA: CLINICAL AND PATHOLOGICAL REVIEW OF TEN CASES.

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12 December 2020

Hyperhomocysteinemia: an independent risk factor for vascular disease

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12 December 2020

Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency

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12 December 2020

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

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12 December 2020

Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers

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12 December 2020

Dystonia in homocystinuria

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Homocystinuria presenting as sagittal sinus thrombosis

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12 December 2020

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

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12 December 2020

Hyperhomocysteinemia as a risk factor for stroke

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12 December 2020

Homocystinuria: pathogenetic mechanisms

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12 December 2020

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

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12 December 2020

Homocystinuria associated with decreased methylenetetrahydrofolate reductase activity

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12 December 2020

Identifiers

DOI

10.1007/S002340050119

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15 August 2017

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