(Q41521401)

2 October 2017

1 reference

title

Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiency (English)

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2 October 2017

Gross M

1

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2 October 2017

1 June 1997

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Journal of Inherited Metabolic Disease

2 October 2017

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2 October 2017

20

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2 October 2017

2

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2 October 2017

186-192

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https://scigraph.springernature.com/pub.10.1023/a:1005352605421

2 October 2017

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cites work

Ribose administration during exercise: effects on substrates and products of energy metabolism in healthy subjects and a patient with myoadenylate deaminase deficiency

1 reference

12 December 2020

Ribose intervention in the cardiac pentose phosphate pathway is not species-specific

1 reference

12 December 2020

Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect

1 reference

12 December 2020

A novel pathway for alternative splicing: identification of an RNA intermediate that generates an alternative 5' splice donor site not present in the primary transcript of AMPD1.

1 reference

12 December 2020

Characterization of the human and rat myoadenylate deaminase genes

1 reference

12 December 2020

Metabolism of D-ribose administered continuously to healthy persons and to patients with myoadenylate deaminase deficiency

1 reference

12 December 2020

New method for detection of C34-T mutation in the AMPD1 gene causing myoadenylate deaminase deficiency

1 reference

12 December 2020

Cloning of human AMP deaminase isoform E cDNAs. Evidence for a third AMPD gene exhibiting alternatively spliced 5'-exons

1 reference

12 December 2020

Myoadenylate deaminase deficiency: absence of correlation with exercise intolerance in 452 muscle biopsies

1 reference

12 December 2020

Myoadenylate deaminase deficiency. Functional and metabolic abnormalities associated with disruption of the purine nucleotide cycle

1 reference

12 December 2020

Energy charge of the adenylate pool as a regulatory parameter. Interaction with feedback modifiers

1 reference

12 December 2020

Myoadenylate deaminase deficiency: successful symptomatic therapy by high dose oral administration of ribose

1 reference

12 December 2020

Myoadenylate deaminase deficiency

1 reference

12 December 2020

Identification of functional domains in AMPD1 by mutational analysis

1 reference

12 December 2020

Failure of D-ribose in myoadenylate deaminase deficiency

1 reference

12 December 2020

The purine nucleotide cycle and its molecular defects

1 reference

12 December 2020

Ammonia production in muscle and other tissues: the purine nucleotide cycle

1 reference

12 December 2020

Disruption of the purine nucleotide cycle. A potential explanation for muscle dysfunction in myoadenylate deaminase deficiency

1 reference

12 December 2020

Myoadenylate deaminase deficiency: an enzyme defect in search of a disease

1 reference

12 December 2020

Myoadenylate deaminase deficiency--a nonfamilial, nondisease?

1 reference

12 December 2020

Myoadenylate Deaminase Deficiency: A New Disease of Muscle

1 reference

12 December 2020

Molecular basis of AMP deaminase deficiency in skeletal muscle

1 reference

12 December 2020

Beneficial effect of D-ribose in patient with myoadenylate deaminase deficiency

1 reference

12 December 2020

Exon recognition and nucleocytoplasmic partitioning determine AMPD1 alternative transcript production

1 reference

12 December 2020

Identifiers

DOI

10.1023/A:1005352605421

1 reference

PubMed ID

9211191

Dimensions Publication ID

2 October 2017

0 references

1 reference

PubMed ID

9211191