Myoadenylate deaminase deficiency, hypertrophic cardiomyopathy and gigantism syndrome

Author:

Skyllouriotis Miranda L.,Marx Manfred,Bittner Reginald E.,Skyllouriotis Petros,Gross Manfred,Wimmer Maria

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,Neurology,Pediatrics, Perinatology, and Child Health

Reference24 articles.

1. Myoadenylate deaminase deficiency: A new disease of muscle;Fishbein;Science,1978

2. Myoadenylate deaminase deficiency: Successful symptomatic therapy by high dose oral administration of ribose;Zöllner;Klin Wochenschr,1986

3. Myoadenylate deaminase deficiency. Muscle biopsy and muscle culture in a patient with gout;Di Mauro;J Neurol Sci,1980

4. Kramer Test;Kramer,1974

5. Muscle biopsy: A modern approach;Dubowitz,1973

Cited by 8 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Cardiomyopathy in neurological disorders;Cardiovascular Pathology;2013-09

2. Primary Adenosine Monophosphate (AMP) Deaminase Deficiency in a Hypotonic Infant;Journal of Child Neurology;2011-02-22

3. Primary myopathies and the heart;Scandinavian Cardiovascular Journal;2008-01

4. REFERENCES (GAMUTS);Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007

5. Myoadenylate-deaminase gene mutation associated with left ventricular hypertrabeculation/non-compaction;Acta Cardiologica;2004-08-01

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