Although there has been considerable debate about whether paternal mitochondrial DNA (mtDNA)
transmission may coexist with maternal transmission of mtDNA, it is generally …

Fabry disease (α‐galactosidase A (α‐Gal A, GLA) deficiency) is a panethnic inborn error of
glycosphingolipid metabolism. Because optimal therapeutic outcomes depend on early …

Purpose: To achieve clinical validation of cutoff values for newborn screening by tandem mass
spectrometry through a worldwide collaborative effort. Methods: Cumulative percentiles of …

OBJECTIVE. Pompe disease is an autosomal recessive lysosomal storage disorder that is
caused by deficient acid α-glucosidase activity and results in progressive, debilitating, and …

Aromatic l-amino acid decarboxylase (AADC) is required for the synthesis of the neurotransmitters
dopamine and serotonin. Children with defects in the AADC gene show compromised …

OBJECTIVE: Pompe disease causes progressive, debilitating, and often life-threatening
musculoskeletal, respiratory, and cardiac symptoms. Favorable outcomes with early intravenous …

Spinal muscular atrophy (SMA) is a rare and devastating disease. New disease-modifying
treatments have recently been approved and early treatment has been related to a better …

In Taiwan, during the period March 2000 to June 2009, 1,495,132 neonates were screened
for phenylketonuria (PKU) and homocystinuria (HCU), and 1,321,123 neonates were …

Pompe disease (glycogen storage disease type II or acid maltase deficiency) is a lysosomal
disorder in which acid α-glucosidase (GAA) deficiencies lead to intralysosomal …

Aromatic L-amino acid decarboxylase deficiency results in decreased neurotransmitter levels
and severe motor dysfunction. Twenty-six patients without head control received bilateral …