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Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: Muscle biopsy and autopsy findings, biochemical and molecular genetic studies
, 2010 A.L. Taratuto, Hasan O. Akman, M. Saccoliti, Miguel A. Riudavets, Naomí Arakaki, L. Mesa, Gustavo Sevlever, Hans H. Goebel, S. DiMauro +8 moreopenalex +1 more sourceDe novo triple segmental aneuploid of 1p, 1q, and 4q in a girl with hypertrophic cardiomyopathy, muscle hypotonia, and multiple congenital anomalies
, 2010 Gwo‐Chin Ma, Yu‐Yuan Ke, Meng‐Luen Lee, Long‐Yen Tsao, Dong‐Jay Lee, Chin‐Wen Yang, Shou‐Jen Kuo, Han‐Yao Chiu, Ming Chen +8 moreopenalex +1 more sourceMultiple acyl-Co A dehydrogenation deficiency (MADD) in a boy with nonketotic hypoglycemia, hepatomegaly, muscle hypotonia and cardiomyopathy. Detection of N-isovalerylglutamic acid and its monoamide.
, 1983 A. Niederwieser, B Steinmann, Ulrich Exner, F. Neuheiser, U. Redweik, M Wang, Silvana K. Rampini, Udo Wendel +7 moreopenalex