The molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency. (Q35199791)

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11 October 2019

title

The molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency (English)

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11 October 2019

author name string

Robinson BH

1

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11 October 2019

Oei J

2

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11 October 2019

Sherwood WG

3

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11 October 2019

Applegarth D

4

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11 October 2019

Wong L

5

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11 October 2019

Haworth J

6

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11 October 2019

Goodyer P

7

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11 October 2019

Casey R

8

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11 October 2019

Zaleski LA

9

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11 October 2019

language of work or name

English

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publication date

1 March 1984

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American Journal of Human Genetics

11 October 2019

published in

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11 October 2019

volume

36

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11 October 2019

issue

2

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11 October 2019

page(s)

283-294

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Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency

11 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684418

Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency

13 July 2018

1 reference

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Absence of cross-reacting material in isolated propionyl CoA carboxylase deficiency: nature of residual carboxylating activity

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684418

Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684418

Assignment of the alpha and beta chains of human propionyl-CoA carboxylase to genetic complementation groups

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684418

The biotin-dependent carboxylase deficiencies

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684418

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684418

A Film Detection Method for Tritium-Labelled Proteins and Nucleic Acids in Polyacrylamide Gels

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684418

Transport of reduced nicotinamide-adenine dinucleotide into mitochondria of rat white adipose tissue

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684418

The Clinical and Biochemical Implications of Pyruvate Carboxylase Deficiency

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684418

Biogenesis of peroxisomes: intracellular site of synthesis of catalase and uricase

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684418

Pyruvate Carboxylase Deficiency and Lactic Acidosis in a Retarded Child without Leigh's Disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684418

Biotin-response organicaciduria. Multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684418

Pyruvate Carboxylase and Phosphoenolpyruvate Carboxykinase Activity in Leukocytes and Fibroblasts from a Patient with Pyruvate Carboxylase Deficiency

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684418

Lactic acidosis due to pyruvate carboxylase deficiency.

13 July 2018

1 reference

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Combined carboxylase defect: biotin-responsiveness in cultured fibroblasts

26 September 2018

1 reference

12 December 2020

Neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in two siblings

1 reference

12 December 2020

The detertent-resistant cytoskeleton of tissue culture cells includes the nucleus and the microfilament bundles

1 reference

12 December 2020

The genetic heterogeneity of lactic acidosis: occurrence of recognizable inborn errors of metabolism in pediatric population with lactic acidosis

1 reference

12 December 2020

Secondary citrullinemia with hyperammonemia in four neonatal cases of pyruvate carboxylase deficiency

1 reference

12 December 2020

Deficient biotinidase activity in late-onset multiple carboxylase deficiency

1 reference

12 December 2020

Infantile multiple carboxylase deficiency: evidence for normal intestinal absorption but renal loss of biotin

1 reference

12 December 2020

[3H]biotin-labeled proteins in cultured human skin fibroblasts from patients with pyruvate carboxylase deficiency

1 reference

12 December 2020

Identifiers

1 reference

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11 October 2019

PubMed publication ID

6424438

1 reference