Myoadenylate deaminase deficiency. A common inherited defect with heterogeneous clinical presentation (Q33829469)

29 July 2017

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title

Myoadenylate deaminase deficiency. A common inherited defect with heterogeneous clinical presentation (English)

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29 July 2017

Sabina RL

1

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29 July 2017

publication date

1 February 2000

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29 July 2017

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29 July 2017

volume

18

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29 July 2017

issue

1

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29 July 2017

page(s)

185-194

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Myoadenylate deaminase deficiency myopathy in pregnancy

29 July 2017

cites work

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7 January 2021

Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria

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7 January 2021

Beneficial effect of a treatment with xylitol in a patient with myoadenylate deaminase deficiency

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The ischemic exercise test in normal adults and in patients with weakness and cramps

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7 January 2021

Nucleotides and Adenosine Monophosphate Deaminase Activity of Muscle in Primary Hypokalæmic Periodic Paralysis

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7 January 2021

AMPD1 gene mutation in congestive heart failure: new insights into the pathobiology of disease progression

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Indicator enzyme assays. I. Adenylate deaminase: principles and application to human muscle biopsies and blood cells

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Myoadenylate deaminase deficiency: inherited and acquired forms.

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Primary, secondary, and coincidental types of myoadenylate deaminase deficiency

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Myoadenylate Deaminase Deficiency: A New Disease of Muscle

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7 January 2021

Myoadenylate deaminase deficiency and malignant hyperthermia susceptibility: is there a relationship?

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Immunologic evidence for three isoforms of AMP deaminase (AMPD) in mature skeletal muscle

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

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Myoadenylate deaminase deficiency or not? Observations on two brothers with exercise-induced muscle pain

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7 January 2021

Muscle adenylic acid deaminase activity: Selective decrease in early-onset Duchenne muscular dystrophy

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Immunolocalization of AMP-deaminase isozymes in human skeletal muscle and cultured muscle cells: concentration of isoform M at the neuromuscular junction

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7 January 2021

Failure of D-ribose in myoadenylate deaminase deficiency

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7 January 2021

Common variant in AMPD1 gene predicts improved clinical outcome in patients with heart failure

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7 January 2021

Characterization of the human AMPD3 gene reveals that 5' exon useage is subject to transcriptional control by three tandem promoters and alternative splicing

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Cloning, sequence and characterization of the human AMPD2 gene: evidence for transcriptional regulation by two closely spaced promoters

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7 January 2021

Tension myalgia versus myoadenylate deaminase deficiency: a case report

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7 January 2021

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

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7 January 2021

Molecular basis of AMP deaminase deficiency in skeletal muscle

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7 January 2021

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

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7 January 2021

AMP deaminase activity of skeletal muscle in neuromuscular disorders in childhood. Histochemical and biochemical studies

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7 January 2021

Muscle AMP deaminase deficiency in 2% of a healthy population

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7 January 2021

Genetic and other determinants of AMP deaminase activity in healthy adult skeletal muscle

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AMP deaminase isozymes in human tissues

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7 January 2021

Association of genetically proven deficiencies of myophosphorylase and AMP deaminase: a second case of 'double trouble'

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7 January 2021

Molecular analysis of the myoadenylate deaminase deficiencies

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7 January 2021

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

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7 January 2021

Myoadenylate deaminase deficiency

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7 January 2021

AMP deaminase deficiency: study of the human skeletal muscle purine metabolism during ischaemic isometric exercise

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Congenital neuromuscular diseases presenting in adulthood

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7 January 2021

Double trouble: Combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci

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7 January 2021

Genetic characteristics of myoadenylate deaminase deficiency

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7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970184-5

7 January 2021

10.1016/S0733-8619(05)70184-5

Identifiers

DOI

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29 July 2017

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