Results 161 to 170 of about 25,294 (214)

Modelling synaptic dysfunction in childhood dementia using human iPSC-derived cortical networks. [PDF]

Nat Commun
Mazzachi P, McDonald E, Greenberg Z, Puerta AN, Tran J, De Silva MI, Christensen C, Adams R, Loskarn S, Beard H, Zabolocki M, Elmasri M, Maack M, Elvidge KL, Hutchinson MR, O'Neill C, Hemsley KM, Melton L, Smith N, Bardy C.   +19 more
europepmc   +1 more source

Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome Survey. [PDF]

JIMD Rep
Burton BK, Amartino H, Giugliani R, Kampmann C, Raiman J, Scarpa M, Tylki-Szymańska A, Audi J, Botha J, Jain S, Muenzer J.   +10 more
europepmc   +1 more source

Clinical, biochemical, and molecular characteristics of Sanfilippo a syndrome (MPS IIIA) in a cohort of Egyptian patients. [PDF]

Orphanet J Rare Dis
Fateen E, Nosier SS, Aziz NNA, Radwan AM, Mohammed EEA.   +4 more
europepmc   +1 more source

Craniovertebral Junction Compression in Patients With Morquio Syndrome: Case Series and Literature Review. [PDF]

Cureus
Rakshit P, Sadayandi Ramesh A, Gopikrishnan R, Mani MK, Sathia Prabhu A.   +4 more
europepmc   +1 more source

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Otosclerosis and Mucopolysaccharidosis

Acta Oto-Laryngologica, 1987
By means of a literature review, clinical observations and temporal bone histopathology in the Hunter syndrome, we could show a reason for otosclerosis in childhood, a very rare observation. Therefore we do not believe that the presence of otosclerotic foci in temporal bones is mere coincidence in MPS II.
G, Zechner, M, Moser
openaire   +2 more sources

A new mucopolysaccharidosis

The Journal of Pediatrics, 1970
Two sibs, the children of healthy unrelated parents, have been evaluated because of multiple soft tissue contractures. Both were found to excrete excessive amounts of mucopolysaccharides, primarily heparitin sulfate, and chondroitin sulfate B. Neither had the bony abnormalities characteristic of the other disorders of mucopolysaccharide metabolism, but
W A, Horton, R N, Schimke
openaire   +2 more sources

Mucopolysaccharidosis in a Cat

Journal of the American Veterinary Medical Association, 1976
SUMMARY A young adult female Siamese cat born of a mother-son mating was referred because of dwarfism, facial abnormalities, severe skeletal deformities, multifocal neurologic deficits, and retinal atrophy. Cats of similar appearance had been observed in a previous litter of the same parents.
K R, Cowell, P F, Jezyk, M E, Haskins, D F, Patterson   +3 more
openaire   +2 more sources