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T.HaseS.IkegamiM.ShibataD.et al
A.McCarthyD
Decreased mitochondrial carnitine translocase in skeletal muscles impairs utilization of fatty acids in insulin-resistant patients
Enzymatic deficiencies leading to decreased synthesis of BH 4 can present similar to deficiencies in phenylalanine metabolism
Amorim et al., 2013) suggest that carriers of the BMTH 742A allele, and particularly homozygous 742AA carriers, are at decreased maternal risk of birth of a child with DS than 742GG carriers (Table 1), making this gene a valuable candidate for further investigation
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