Patient informs himself in diagnostic booklet

A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C.

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy.

Patient informs himself in diagnostic booklet

Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family.

Patient informs himself in diagnostic booklet

A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach.