Over the past three decades, we studied 184 individuals with 174 different molecular variants
of branched-chain α-ketoacid dehydrogenase activity, and here delineate essential clinical …

<p id="p001">Contactin-associated protein-like 2 (CASPR2) is encoded by <italic>CNTNAP2</italic>
and clusters voltage-gated potassium channels (K_v1.1) at the nodes …

… Kevin A. Strauss is a practicing pediatrician at the Clinic for Special Children in Strasburg,
Pennsylvania. He is interested in brain development and function, with a particular focus on …

Objective. To evaluate an approach to the diagnosis and treatment of maple syrup disease (MSD).
Methods. Family histories and molecular testing for the Y393N mutation of the E1α …

SPR1NT ( NCT03505099 ) was a Phase III, multicenter, single-arm study to investigate the
efficacy and safety of onasemnogene abeparvovec for presymptomatic children with biallelic …

Most children with biallelic SMN1 deletions and three SMN2 copies develop spinal muscular
atrophy (SMA) type 2. SPR1NT ( NCT03505099 ), a Phase III, multicenter, single-arm trial, …

Objective To report clinical and immunological investigations of contactin‐associated protein‐like
2 (Caspr2), an autoantigen of encephalitis and peripheral nerve hyperexcitability (PNH…

The Clinic for Special Children (CSC) has integrated biochemical and molecular methods
into a rural pediatric practice serving Old Order Amish and Mennonite (Plain) children. Among …

Familial hypercholanemia (FHC) is characterized by elevated serum bile acid concentrations,
itching, and fat malabsorption 1 , 2 . We show here that FHC in Amish individuals is …

Intellectual disability (ID) affects approximately 1%–3% of humans with a gender bias
toward males. Previous studies have identified mutations in more than 100 genes on the X …