Results 91 to 100 of about 23,853 (147)

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

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

Novel Phenotypic Insights into the <i>IDS</i> c.817C>T Variant in Mucopolysaccharidosis Type II from Newborn Screening Cohorts. [PDF]

Int J Neonatal Screen
Beauregard-Lacroix É, Menello C, Steffensen M, Lin HY, Chuang CK, Lin SP, Ficicioglu C.   +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

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

Mucopolysaccharidosis Type IIIB With Pancytopenia: A Case Report and Hematological Correlations in Mice. [PDF]

Clin Genet
Beauregard-Lacroix É, Dubot P, Pshezhetsky AV, Campeau PM.   +3 more
europepmc   +1 more source

Comprehensive Characterization of a Cluster of Mucopolysaccharidosis IIIB in Ecuador. [PDF]

Diagnostics (Basel)
Castro Moreira ML, Montenegro YHA, Salatino-Oliveira A, Montano HQ, Bareiro RFN, Santos-Lopes SSD, Silva TRD, Azevedo LKS, Silva KBLD, Moreira AWA, Araujo SS, Kubaski F, Trapp FB, Brusius-Facchin AC, Sebastião FM, Michelin-Tirelli K, Baldo G, Giugliani R, Palhares D.   +18 more
europepmc   +1 more source

Diagnostic networks for IEM in Brazil: report on 10 years of activity of the LSD Brazil Network, helping Brazil and Latin America to identify patients with lysosomal storage diseases. [PDF]

J Community Genet
Trapp FB, Riegel M, Michelin-Tirelli K, da Silva LAL, Iop GD, Bender-Pasetto F, Sebastião FM, da Silva Moraes I, Lopes FF, Dos Santos ORT, da Rosa Pereira F, Silva LP, Luiz AA, da Silva CA, Lucas KDP, Netto ABO, Brasil CS, Leistner S, Brusius-Facchin AC, Deon M, Civallero GES, Giugliani R.   +21 more
europepmc   +1 more source

The first case of sick sinus syndrome with an adult Sanfilippo A syndrome: a case report with review of literature. [PDF]

BMC Neurol
Wang Y, Zhou W, Du C, Tang Y, Zhu K.
europepmc   +1 more source