(Q44449455)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:958746%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

title

Megavitamin responsive aminoacidopathies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:958746%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

author name string

R. E. Hillman

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A958746

10 August 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=958746

10 August 2022

publication date

1 August 1976

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:958746%20AND%20SRC:MED&resulttype=core&format=json

Pediatric Clinics of North America

17 September 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:958746%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

volume

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:958746%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:958746%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

page(s)

557-567

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:958746%20AND%20SRC:MED&resulttype=core&format=json

Congenital defects in folate utilization

17 September 2019

cites work

1 reference

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Megaloblastic anemia and mental retardation associated with hyperfolic-acidemia: probably due to N5 methyltetrahydrofolate transferase deficiency

7 January 2021

1 reference

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Biotin-responsive propionicacidaemia.

7 January 2021

1 reference

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Thiamine increases the specific activity of human liver branched chain α-ketoacid dehydrogenase

7 January 2021

1 reference

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Inborn errors of folate metabolism (first of two parts).

7 January 2021

1 reference

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Pathogenesis of hereditary vitamin-D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D.

7 January 2021

1 reference

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Folate-responsive homocystinuria and "schizophrenia". A defect in methylation due to deficient 5,10-methylenetetrahydrofolate reductase activity

7 January 2021

1 reference

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Cystathioninuria: nature of the defect

7 January 2021

1 reference

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Biotin-responsive beta-methylcrotonylglycinuria

7 January 2021

1 reference

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Homocystinuria with methylmalonic aciduria: Two cases in a sibship

7 January 2021

1 reference

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Natural and Synthetic Sources of Circulating 25-Hydroxyvitamin D in Man

7 January 2021

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Interrelations of vitamin B12 and folic acid metabolism: folic acid clearance studies

7 January 2021

1 reference

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Inhibition of glycine-serine interconversion in cultured human fibroblasts by products of isoleucine catabolism.

7 January 2021

1 reference

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Inhibition of Glycine Oxidation in Cultured Fibroblasts by Isoleucine

7 January 2021

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On the Mechanism of Pyridoxine Responsive Homocystinuria. II. Properties of Normal and Mutant Cystathionine β-Synthase from Cultured Fibroblasts

7 January 2021

1 reference

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On a new, hereditary disorder in tryptophan metabolism dependent on vitamin B6

7 January 2021

1 reference

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Congenital malabsorption of folate

7 January 2021

1 reference

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Methylmalonicacidemia: biochemical heterogeneity in defects of 5'-deoxyadenosylcobalamin synthesis

7 January 2021

1 reference

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Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine

7 January 2021

1 reference

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A derangement in B 12 metabolism leading to homocystinemia, cystathioninemia and methylmalonic aciduria

7 January 2021

1 reference

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Homocystinuria associated with decreased methylenetetrahydrofolate reductase activity

7 January 2021

1 reference

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Folic acid non-dependent formiminoglutamic aciduria in two siblings

7 January 2021

1 reference

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Methylmalonic aciduria. An inborn error leading to metabolic acidosis, long-chain ketonuria and intermittent hyperglycinemia

7 January 2021

1 reference

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Methylmalonic Aciduria: Metabolic Block Localization and Vitamin B 12 Dependency

7 January 2021

1 reference

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Thiamine-responsive maple-syrup-urine disease

7 January 2021

1 reference

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Glutamic acid decarboxylase (GAD) in mammalian tissue outside the central nervous system, and its possible relevance to hereditary vitamin B6 dependency with seizures.

7 January 2021

1 reference

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Studies of the mechanism of pyridoxine-responsive homocystinuria

7 January 2021

1 reference

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Identification of folic acid compounds in rat liver

7 January 2021

1 reference

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Vitamin B6 dependent xanthurenic aciduria

7 January 2021

1 reference

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Vitamin B 6 -dependency of glutamic acid decarboxylase in the kidney from a patient with vitamin B 6 dependent convulsion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0031-3955%2816%2933322-3

10.1016/S0031-3955(16)33322-3

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:958746%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

1 reference