Primary adenosine monophosphate (AMP) deaminase deficiency in a hypotonic infant

Journal of Child Neurology

Volumn 26, Issue 6, 2011, Pages 734-737

  Castro Gago, Manuel ^a   Gómez Lado, Carmen ^a   Pérez Gay, Laura ^a   Eirís Puñal, Jesús ^a   Pintos Martínez, Elena ^a   García Consuegra, Inés ^b   Martín, Miguel Angel ^b  

^a University Hospital of Santiago de Compostela   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

adenosine monophosphate deaminase deficiency; congenital muscle weakness; hyperCKemia; muscle pain; rhabdomyolysis

Indexed keywords

ADENOSINE MONOPHOSPHATE DEAMINASE 1 GENE; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONGENITAL DISORDER; FEMALE; GENE; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; METABOLIC DISORDER; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; PRIMARY ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY; PRIORITY JOURNAL;

AMP DEAMINASE; FEMALE; HUMANS; INFANT; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUTATION;

EID: 79957604377     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073810390367     Document Type: Article

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