Condition: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V


rs104894590 in NAGLU gene and CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V PMID 9443878 1998 NAGLU mutations underlying Sanfilippo syndrome type B.

PMID 10094189 1999 Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes.

PMID 8650226 1996 The molecular basis of Sanfilippo syndrome type B.

PMID 9832037 1998 Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

PMID 21712855 2012 A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions.

PMID 20852935 2010 Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.

PMID 25256447 2015 Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III.

PMID 9443875 1998 Genotype-phenotype correspondence in Sanfilippo syndrome type B.

PMID 26907177 2016 Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB.

PMID 9950362 1999 Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.

PMID 14984474 2004 Sanfilippo B syndrome: molecular defects in Greek patients.

PMID 25818867 2015 Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation.