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Research Database: Hypotonia
Research Database
(Giurgiutiu 2008) Persistent growth failure in PWS associated with SCAD deficiency
(Campistol 2007) Cerebral creatine transporter deficiency
(Stefan 2005) Hormonal and metabolic defects in PWS mouse model with neonatal failure to thrive
(Pearl 2003) Succinic semialdehyde dehydrogenase deficiency in children and adults
(Baysal 2001) Phenotypic dichotomy in mitochondrial complex II genetic disorders
(Rubio-Gozalbo 1997) Favourable clinical course in an infant with severe complex III deficiency
(Mandel 1988) Importance of recognizing secondary carnitine deficiency in organic acidemias
(Winter 1987) Clinical observations in pediatric patients with secondary carnitine deficiency
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