(Q40592884)

21 September 2017

Failure of lysosomal release of vitamin B12: a new complementation group causing methylmalonic aciduria (cblF). (English)

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21 September 2017

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Watkins D

1

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21 September 2017

Rosenblatt DS

series ordinal

2

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21 September 2017

language of work or name

English

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publication date

1 September 1986

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American Journal of Human Genetics

21 September 2017

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21 September 2017

39

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21 September 2017

3

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21 September 2017

404-408

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Protein measurement with the Folin phenol reagent

21 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683971

Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy. An inborn error of metabolism due to a defect in cobalamin metabolism

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683971

Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683971

Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683971

Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683971

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683971

Defect in vitamin B12 release from lysosomes: newly described inborn error of vitamin B12 metabolism.

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683971

17 June 2018

Identifiers

1 reference

21 September 2017

PubMed publication ID

3766542

1 reference