21-hydroxylase deficiency ABCD1 GALM GALM deficiency Japan Japanese QT prolongation SMN1 adrenoleukodystrophy adult patients allele-specific PCR argininosuccinic acid bic Book Industry Communication::M Medicine biotin cardiomyopathy cobalamin congenital adrenal hyperplasia congenital hypothyroidism cystathionine β-synthase deficiency delayed rise in TSH deletion derivatization disorders of cobalamin metabolism dried blood spot galactosemia genetic analysis genotype–phenotype correlation glycogen storage disease type 1a homocystinuria hyperphenylalaninemia