(Q28854608)

English

Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12)

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PubMed publication ID

28 February 2017

Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12) (English)

1 reference

PubMed publication ID

28 February 2017

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1 reference

GOA release 2020-03-11

cobalamin transport

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GOA release 2020-03-11

Natascia Anastasio

object named as

Natascia Anastasio

11

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Luciana Hannibal

object named as

Luciana Hannibal

5

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object named as

Sergey Fedosov

8

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author name string

Edward V. Quadros

1

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PubMed publication ID

28 February 2017

Shao-Chiang Lai

2

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PubMed publication ID

28 February 2017

Yasumi Nakayama

3

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28 February 2017

Jeffrey M. Sequeira

4

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PubMed publication ID

28 February 2017

Sihe Wang

6

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PubMed publication ID

28 February 2017

Donald W. Jacobsen

7

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PubMed publication ID

28 February 2017

Erica Wright

9

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PubMed publication ID

28 February 2017

Renata C. Gallagher

10

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PubMed publication ID

28 February 2017

David Watkins

12

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PubMed publication ID

28 February 2017

David S. Rosenblatt

13

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PubMed publication ID

28 February 2017

publication date

1 August 2010

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PubMed publication ID

28 February 2017

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PubMed publication ID

28 February 2017

31

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28 February 2017

8

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28 February 2017

924–929

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PubMed publication ID

28 February 2017

Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene product

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909035

16 March 2017

The protein and the gene encoding the receptor for the cellular uptake of transcobalamin-bound cobalamin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909035

16 March 2017

Structural basis for mammalian vitamin B12 transport by transcobalamin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909035

16 March 2017

Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909035

16 March 2017

The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909035

16 March 2017

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909035

3 June 2018

Causes of and diagnostic approach to methylmalonic acidurias.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909035

3 June 2018

Gene identification for the cblD defect of vitamin B12 metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909035

3 June 2018

Multiligand endocytosis and congenital defects: roles of cubilin, megalin and amnionless

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909035

3 June 2018

Identification of a 4-base deletion in the gene in inherited intrinsic factor deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909035

3 June 2018

Transcobalamin II synthesized in the intestinal villi facilitates transfer of cobalamin to the portal blood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909035

3 June 2018

Rapid HPLC determination of total homocysteine and other thiols in serum and plasma: sex differences and correlation with cobalamin and folate concentrations in healthy subjects.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909035

3 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909035

3 June 2018

Expression of transcobalamin II receptors by human leukemia K562 and HL-60 cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909035

3 June 2018

Function of vitamin B12 in the central nervous system as revealed by congenital defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909035

3 June 2018

Transport of vitamin B12 into mouse leukemia cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909035

3 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909035

3 June 2018

Transcobalamin II deficiency at birth.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909035

26 November 2018

Transcobalamin (TC) deficiency--potential cause of bone marrow failure in childhood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909035

26 November 2018

Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909035

26 November 2018

Mapping the functional domains of human transcobalamin using monoclonal antibodies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909035

26 November 2018

The binding properties of the human receptor for the cellular uptake of vitamin B12.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909035

26 November 2018

Cobalamin status and its biochemical markers methylmalonic acid and homocysteine in different age groups from 4 days to 19 years

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909035

26 November 2018

Methylmalonic aciduria in the newborn

1 reference

https://pubmed.ncbi.nlm.nih.gov/20524213

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inherited Lack of Transcobalamin II in Serum and Megaloblastic Anaemia: a Further Patient

1 reference

https://pubmed.ncbi.nlm.nih.gov/20524213

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid analysis of cobalamin coenzymes and related corrinoid analogs by high-performance liquid chromatography

1 reference

https://pubmed.ncbi.nlm.nih.gov/20524213

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Benign methylmalonic aciduria

1 reference

https://pubmed.ncbi.nlm.nih.gov/20524213

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Solid-phase sample extraction for rapid determination of methylmalonic acid in serum and urine by a stable-isotope-dilution method

1 reference

https://pubmed.ncbi.nlm.nih.gov/20524213

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical spectrum and diagnosis of cobalamin deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/20524213

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Betaine:homocysteine methyltransferase--a new assay for the liver enzyme and its absence from human skin fibroblasts and peripheral blood lymphocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/20524213

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/HUMU.21297

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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