Results 181 to 190 of about 32,710 (240)

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

Antimicrobial use in pediatric hematopoietic stem cell transplantation in China: a retrospective multicenter cohort study. [PDF]

BMC Pediatr
Cui Y, Cheng H, Liu B, Zhong X, Zhang J.
europepmc   +1 more source

Retinal microstructual and microvascular changes in mucopolysaccharidoses. [PDF]

Graefes Arch Clin Exp Ophthalmol
Wipprecht L, Borchers AJ, Stingl JV, Schmitz LS, von Plettenberg K, Hennermann JB, Hopf S, Pitz S, Matlach J.   +8 more
europepmc   +1 more source

AAVrh10 gene therapy ameliorates central and peripheral nervous system disease in canine globoid cell leukodystrophy (Krabbe disease) [PDF]

, 2018
et al,, Jiang, Xuntain, Ory, Daniel S
core   +1 more source

Case report of neuronopathic mucopolysaccharidosis type II: Early intracerebroventricular enzyme replacement therapy and hematopoietic cell transplantation with developmental outcomes up to 5 years of age. [PDF]

Mol Genet Metab Rep
Ikari A, Hama A, Okuyama T.
europepmc   +1 more source

The imperative for national legislation on rare diseases in China: A policy review and call to action. [PDF]

Intractable Rare Dis Res
Li Y, Liu Z, Huang R, Liu Y.
europepmc   +1 more source

The hidden burden of lysosomal dysfunction: visual decline and microphthalmia in Hunter syndrome. [PDF]

Arq Neuropsiquiatr
Sheikh M, Thein I, Abrams KJ, Freitas LF.   +3 more
europepmc   +1 more source

Reclassifying <i>IDUA</i> c.250G>A (p.Gly84Ser): Evidence for a Possible Pseudodeficiency Allele. [PDF]

Int J Neonatal Screen
Connolly C, Fisher R, Yang C, Schelley S, Mendelsohn BA, Lee C, Ahmad A.   +6 more
europepmc   +1 more source

Imaging hallmarks of mucopolysaccharidosis in a young Ethiopian boy: A case report. [PDF]

Radiol Case Rep
Gebresilassie MY, Mehammed AH, Damtie MY, Midekso HD, Bezabih NA, Abera MT, Worku AB.   +6 more
europepmc   +1 more source

Progressive Hand Stiffness and Numbness in a Child: An Atypical Neurological Presentation of Scheie Syndrome-A Case Report. [PDF]

Neurol Int
Alharthi AS, Hassan CI, Alsharkawy AA, Alzahrani SDS, Alzahrani SA.   +4 more
europepmc   +1 more source