TY  - JOUR
AU  - Ley-Martos, Myriam
AU  - Guerrero, Juan M
AU  - Lucas-Javato, Marta
AU  - Remon-Garcia, Cristina
AU  - Garcia-Lozano, J Raul
AU  - Colon, Cristobal
AU  - Crujeiras, Pablo
AU  - Rodrigues, Daniel
AU  - Paul-Sanchez, Pedro
AU  - Macher, Hada C
PY  - 2018
DO  - 10.1097/MD.0000000000012872
UR  - http://hdl.handle.net/10668/13101
T2  - Medicine
AB  - Mucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome is produced by the deficiency of the enzyme arylsulfatase B, responsible for the hydrolysis of N-acetyl-D-galactosamine, chondroitin sulfate, and dermatan sulfate. A 3-year-old male...
LA  - en
PB  - Wolters Kluwer Health
KW  - arylsulfatase B
KW  - lysosomal disorder
KW  - mucopolysaccharidosis type V
KW  - rare diseases
KW  - Child, Preschool
KW  - Enzyme Replacement Therapy
KW  - Glycosaminoglycans
KW  - Homozygote
KW  - Humans
KW  - Male
KW  - Mucopolysaccharidosis IV
KW  - N-Acetylgalactosamine-4-Sulfatase
KW  - Phenotype
KW  - Polymorphism, Single Nucleotide
KW  - Recombinant Proteins
KW  - beta-Galactosidase
TI  - Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy: Case report.
TY  - research article
VL  - 97
ER  -