Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes. (Q36485435)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21748408%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

review article

1 reference

title

Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21748408%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference

methylmalonic acidemia

1 reference

1 reference

Nuria Carrillo-Carrasco

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21748408%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

author name string

Charles P Venditti

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21748408%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

publication date

12 July 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21748408%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

7 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21748408%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

volume

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21748408%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21748408%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

page(s)

103-114

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21748408%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s10545-011-9365-x

7 February 2020

exact match

0 references

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Creatine metabolism in combined methylmalonic aciduria and homocystinuria

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Homocysteine induces oxidative stress by uncoupling of NO synthase activity through reduction of tetrahydrobiopterin.

21 September 2018

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Perturbations in homocysteine-linked redox homeostasis in a murine model for hyperhomocysteinemia

21 September 2018

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L-Homocysteine and L-homocystine stereospecifically induce endothelial nitric oxide synthase-dependent lipid peroxidation in endothelial cells

21 September 2018

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Potential for misdiagnosis due to lack of metabolic derangement in combined methylmalonic aciduria/hyperhomocysteinemia (cblC) in the neonate

21 September 2018

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High exogenous homocysteine modifies eye development in early chick embryos

21 September 2018

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Increased superoxide production in coronary arteries in hyperhomocysteinemia: role of tumor necrosis factor-alpha, NAD(P)H oxidase, and inducible nitric oxide synthase

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Cobalamin C deficiency complicated by an atypical glomerulopathy

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Adult-onset combined methylmalonic aciduria and homocystinuria (cblC).

21 September 2018

1 reference

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Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency.

21 September 2018

1 reference

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Demyelination and inborn errors of the single carbon transfer pathway.

21 September 2018

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Homocysteic and homocysteine sulphinic acid exhibit excitotoxicity in organotypic cultures from rat brain.

21 September 2018

1 reference

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Methylmalonic acidemia, cobalamin C type, presenting with cutaneous manifestations

21 September 2018

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

21 September 2018

1 reference

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Protective effects of methylcobalamin, a vitamin B12 analog, against glutamate-induced neurotoxicity in retinal cell culture.

21 September 2018

1 reference

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Seizures induced by homocysteine in rats during ontogenesis.

21 September 2018

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

21 September 2018

1 reference

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

21 September 2018

1 reference

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Transfer of Cyst(e)ine and Methionine across the Human Placenta

21 September 2018

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Crossref

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Treatment responsive executive and behavioral dysfunction associated with Vitamin B12 deficiency

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12 December 2020

Optic atrophy in association with cobalamin C (cblC) disease

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12 December 2020

Optic neuropathy in methylmalonic acidemia: the role of neuroprotection

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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

Expanded newborn screening

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12 December 2020

Mutations in methylenetetrahydrofolate reductase or cystathionine beta-synthase gene, or a high-methionine diet, increase homocysteine thiolactone levels in humans and mice

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12 December 2020

Congenital defect in intracellular cobalamin metabolism resulting in homocysteinuria and methylmalonic aciduria. I. Case report and histopathology

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12 December 2020

Clinical trials: curing a critical deficiency in metabolic medicine

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12 December 2020

Evidence based medicine in inborn errors of metabolism: is there any and how to find it

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12 December 2020

Epileptiform ocular movements with methylmalonic aciduria and homocystinuria

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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

Reversible dementia in an adolescent with cblC disease: clinical heterogeneity within the same family

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12 December 2020

Homocyst(e)ine decreases bioavailable nitric oxide by a mechanism involving glutathione peroxidase

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12 December 2020

Homocysteine and thrombosis: from basic science to clinical evidence

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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

Metabolism of homocysteine thiolactone in human cell cultures. Possible mechanism for pathological consequences of elevated homocysteine levels

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12 December 2020

Homocysteine-induced endothelial cell injury in vitro: a model for the study of vascular injury

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12 December 2020

Homocysteine and vascular disease

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Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21748408%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21748408%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference