Results 61 to 70 of about 11,815 (173)
A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type D (MPS IIID) [PDF]
, 1993 4-Methylumbelliferyl-α-N-acetylglucosamine 6-sulphate was synthesized and shown to be a substrate for the lysosomal N-acetylglucosamine-6-sulphate sulphatase (GlcNAc-6S sulphatase). Fibroblasts and leukocytes from 3 different Sanfilippo D patients showed
Boer, A.M. +4 more
core +2 more sources
Clinical Genetics, Volume 108, Issue 5, Page 604-608, November 2025.We report an individual with mucopolysaccharidosis type IIIB and chronic pancytopenia. Hematological studies in a mouse model revealed microcytic anemia and decreased monocyte count. Hence, pancytopenia is thought to be secondary to mucopolysaccharidosis type IIIB, and we suggest that a complete blood count should be included in the clinical ...
Éliane Beauregard‐Lacroix +3 more
wiley +1 more source
Pediatrics International, Volume 68, Issue 1, January/December 2026.
Takashi Okuno +6 more
wiley +1 more source
Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy [PDF]
, 2013 For most lysosomal storage diseases (LSDs) affecting the CNS, there is currently no cure. The BBB, which limits the bioavailability of drugs administered systemically, and the short half-life of lysosomal enzymes, hamper the development of effective ...
Albert Ribera +22 more
core +2 more sources
Osteoarthropathy in mucopolysaccharidosis type II.
Clujul medical (1957), 2015 Mucopolysaccharidosis type II (MPS type II, Hunter syndrome) is a rare (~ 1/1500.000), X-linked inherited disorder (affects boys) due to deficiency of the lysosomal enzyme iduronate sulfatase (Xq.28). The complex clinical picture includes osteoarthropathy with a tendency to flexion stiffness and disability.
Ioana, Nascu +5 more
openaire +1 more source
A Twist in the Diagnosis: Chronic Arthropathy Without Inflammation
Arthritis Care &Research, Volume 77, Issue 12, Page 1395-1402, December 2025.
María Á. Puche‐Larrubia +3 more
wiley +1 more source
Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome [PDF]
, 2016 OBJECTIVE: To present long-term respiratory function outcomes from an open-label, multi-center, phase 3 extension study (MOR-005) of elosulfase alfa enzyme replacement therapy (ERT) in patients with Morquio A syndrome.
AlSayed, MD +14 more
core +2 more sources
Cervical Spine MRI Findings in Patients with Mucopolysaccharidosis Type II
Pediatric Neurosurgery, 2015 Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked, recessive, lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase (EC 3.1.6.13). The purpose of this report is to describe cervical spine magnetic resonance (MRI) findings in MPS II patients and to correlate them with clinical phenotype.
Żuber, A. +4 more
openaire +3 more sources
Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII [PDF]
, 2013 Since the sequencing of the Canis lupus familiaris genome the dog has become a powerful tool for scientists. Selective breeding has created more than 400 different breeds each representing genetic isolates with breed-specific morphological and behavioral
Hytönen, Marjo
core
Mucopolysaccharidosis type II with inguinal hernia.
Journal of Nepal Health Research Council, 2015 Mucopolysaccharidosis Type II (Hunter syndrome) is a rare X-linked recessive storage disorder caused by deficiency of lysosomal enzyme iduronate-2-sulfatase, causing excess accumulation of glycosaminoglycans in the lysosomes resulting in cellular damage, organ failure and death.
A, Rayamajhi +3 more
openaire +1 more source