Literature DB >> 10211487

Primary, secondary, and coincidental types of myoadenylate deaminase deficiency.

W N Fishbein.   

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Year:  1999        PMID： 10211487     DOI： 10.1002/1531-8249(199904)45:4<547::aid-ana25>3.0.co;2-l

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


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  7 in total

1.  Myoadenylate deaminase deficiency does not affect muscle anaplerosis during exhaustive exercise in humans.

Authors:  M A Tarnopolsky; G Parise; M J Gibala; T E Graham; J W Rush
Journal:  J Physiol       Date:  2001-06-15       Impact factor: 5.182

Review 2.  Metabolic myopathies: functional evaluation by different exercise testing approaches.

Authors:  L Volpi; G Ricci; D Orsucci; R Alessi; F Bertolucci; S Piazza; C Simoncini; M Mancuso; G Siciliano
Journal:  Musculoskelet Surg       Date:  2011-03-04

Review 3.  Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction.

Authors:  Josef Finsterer
Journal:  Pediatr Cardiol       Date:  2009-01-29       Impact factor: 1.655

4.  Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.

Authors:  S E Olpin; A Afifi; S Clark; N J Manning; J R Bonham; A Dalton; J V Leonard; J M Land; B S Andresen; A A Morris; F Muntoni; D Turnbull; M Pourfarzam; S Rahman; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

5.  Right ventricular obstructive hypertrophic cardiomyopathy in primary myo-adenylate deaminase deficiency.

Authors:  C de Gregorio; G Morabito; O Musumeci; R Donato; A Toscano
Journal:  Acta Myol       Date:  2011-06

6.  Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study.

Authors:  Fabrice Rannou; Arnaud Uguen; Virginie Scotet; Cédric Le Maréchal; Odile Rigal; Pascale Marcorelles; Eric Gobin; Jean-Luc Carré; Fabien Zagnoli; Marie-Agnès Giroux-Metges
Journal:  PLoS One       Date:  2015-07-24       Impact factor: 3.240

7.  Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency.

Authors:  Fabrice Rannou; Virginie Scotet; Pascale Marcorelles; Roxane Monnoyer; Cédric Le Maréchal
Journal:  PLoS One       Date:  2017-11-02       Impact factor: 3.240
  7 in total

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