Purpose To determine if there is significant symptomatology in women with heterozygous α-galactosidase
mutations. Methods Data from medical records of the 44 heterozygous …

Purpose To develop educational guidelines for the diagnostic confirmation and management
of individuals identified by newborn screening, family-based testing after proband …

Purpose: Enzyme replacement therapy with alglucosidase alfa for infantile Pompe disease
has improved survival creating new management challenges. We describe an emerging …

Objective. Although many pediatricians pursue renal ultrasonography when patients are
noted to have external ear malformations, there is much confusion over which specific ear …

Mitochondrial complex III ( CIII ) deficiency is a relatively rare disease with high clinical and
genetic heterogeneity. CIII comprises 11 subunits encoded by one mitochondrial and 10 …

BACKGROUND: Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an autosomal
recessive inborn error of mitochondrial fatty acid oxidation with highly variable biochemical, …

BACKGROUND. Cross-reactive immunological material–negative (CRIM-negative) infantile
Pompe disease (IPD) patients develop an immune response against enzyme replacement …

Background Drug development for ultra-rare diseases is challenging because small sample
sizes and heterogeneous study populations hamper the ability of randomized, placebo-…

Congenital disorders of glycosylation (CDG) arise from pathogenic mutations in over 100
genes leading to impaired protein or lipid glycosylation. ALG1 encodes a β1,4 …

The mucopolysaccharidoses are a group of inherited metabolic diseases caused by
deficiencies in enzymes involved in the sequential degradation of glycosaminoglycans (GAGs) …