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Glutaric aciduria: Clinical and laboratory findings in two brothers

✍ Scribed by Niels Gregersen; Niels Jacob Brandt; Ernst Christensen; Ida Grøn; Karsten Rasmussen; Sven Brandt

Book ID: 119456299
Publisher: Elsevier Science
Year: 1977
Tongue: English
Weight: 426 KB
Volume: 90
Category: Article
ISSN: 1097-6833
DOI: 10.1016/s0022-3476(77)81239-0

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## Abstract Joubert syndrome (JS) is characterized by hypotonia, ataxia, developmental delay, and a typical neuroimaging finding, the so‐called “molar tooth sign” (MTS). The association of MTS and polymicrogyria (PMG) has been reported as a distinct JS‐related disorder (JSRD). So far, five patients