(Q41677990)

7 October 2017

title

Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin (English)

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7 October 2017

Enns GM

1

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7 October 2017

Barkovich AJ

2

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7 October 2017

Rosenblatt DS

3

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7 October 2017

Fredrick DR

4

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7 October 2017

Weisiger K

5

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7 October 2017

Ohnstad C

6

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7 October 2017

Packman S

7

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7 October 2017

publication date

1 June 1999

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Journal of Inherited Metabolic Disease

7 October 2017

published in

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7 October 2017

volume

22

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7 October 2017

issue

5

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7 October 2017

page(s)

599-607

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Acute extrapyramidal syndrome in methylmalonic acidemia: “Metabolic stroke” involving the globus pallidus

7 October 2017

cites work

1 reference

12 December 2020

Symmetrical necrosis of the basal ganglia in methylmalonic acidaemia

1 reference

12 December 2020

Cobalamin coenzyme synthesis in normal and mutant human fibroblasts. Evidence for a processing enzyme activity deficient in cblC cells

1 reference

12 December 2020

Altered vitamin B12 metabolism in fibroblasts from a patient with megaloblastic anemia and homocystinuria due to a new defect in methionine biosynthesis

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification and characterization of two enzymes involved in the intracellular metabolism of cobalamin. Cyanocobalamin beta-ligand transferase and microsomal cob(III)alamin reductase

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12 December 2020

Inherited disorders of vitamin B12 metabolism

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12 December 2020

Focal changes in the globi pallidi associated with neurological dysfunction in methylmalonic acidaemia

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12 December 2020

Demyelination and inborn errors of the single carbon transfer pathway

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12 December 2020

Ocular Manifestations in the Marfan Syndrome and Homocystinuria

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12 December 2020

Cor pulmonale as a complication of methylmalonic acidemia and homocystinuria (Cbl-C type).

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12 December 2020

Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC).

1 reference

12 December 2020

Epileptiform ocular movements with methylmalonic aciduria and homocystinuria

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12 December 2020

Neurological dysfunction in methylmalonic acidaemia is probably related to the inhibitory effect of methylmalonate on brain energy production

1 reference

12 December 2020

Effect of methylmalonate on in vitro lactate release and carbon dioxide production by brain of suckling rats

1 reference

12 December 2020

Bilateral lucency of the globus pallidus complicating methylmalonic acidemia

1 reference

12 December 2020

Mitochondrial NADH- or NADPH-linked aquacobalamin reductase activity is low in human skin fibroblasts with defects in synthesis of cobalamin coenzymes

1 reference

12 December 2020

Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities

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12 December 2020

Methylmalonic acidemia, cobalamin C type, presenting with cutaneous manifestations

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12 December 2020

CT and MR studies of methylmalonic acidemia

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12 December 2020

Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).

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12 December 2020

Ocular histopathologic characteristics of cobalamin C type vitamin B12 defect with methylmalonic aciduria and homocystinuria

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12 December 2020

Methylmalonic acidemia: brain lesions in a case of vitamin B12 non-responsive (mut0) type.

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12 December 2020

Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria

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12 December 2020

Inhibition of succinate dehydrogenase and beta-hydroxybutyrate dehydrogenase activities by methylmalonate in brain and liver of developing rats

1 reference

12 December 2020

CT and MR of the brain in disorders of the propionate and methylmalonate metabolism

1 reference

12 December 2020

Congenital methylmalonic aciduria--homocystinuria with megaloblastic anemia: observations on response to hydroxocobalamin and on the effect of homocysteine and methionine on the deoxyuridine suppression test

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12 December 2020

Effects of the disruption of transmethylation in the central nervous system: an animal model.

1 reference

12 December 2020

Cerebral CT findings in methylmalonic acid propionic acidemias.

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12 December 2020

Identifiers

DOI

10.1023/A:1005517727451

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Dimensions Publication ID

7 October 2017

1041957111

0 references

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