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Evaluation of the pediatric patient with hypotonia: don’t forget the hypotonia‐cystinuria syndrome!
Author(s) -
Jaeken Jaak,
Creemers John,
Régal Luc
Publication year - 2012
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/j.1469-8749.2011.04195.x
Subject(s) - hypotonia , cystinuria , failure to thrive , medicine , pediatrics , muscle hypotonia , phenotype , urinary system , endocrinology , genetics , gene , biology , biochemistry , cysteine , cystine , enzyme