Results 111 to 120 of about 11,658 (188)

Safety of intrathecal delivery of recombinant human arylsulfatase A in children with metachromatic leukodystrophy: Results from a phase 1/2 clinical trial.

Molecular Genetics and Metabolism, 2020
C. í Dali, C. Sevin, I. Krägeloh-Mann, R. Giugliani, N. Sakai, James Wu, M. Wasilewski   +6 more
semanticscholar   +1 more source

Metachromatic leukodystrophy: A story of hope woven from sorrow. [PDF]

Mol Ther
Adang L.
europepmc   +1 more source

Experiences of Patients and Families Living with Krabbe Disease. [PDF]

J Patient Exp
Koto Y, Yamashita W, Kitamura K, Sakai N.   +3 more
europepmc   +1 more source

Exploration of phytoconstituents of Medhya Rasayana herbs to identify potential inhibitors for cerebroside sulfotransferase through high-throughput screening. [PDF]

Front Mol Biosci
Singh N, Singh AK.
europepmc   +1 more source

Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study. [PDF]

J Child Neurol
Lentini L, Toutounchi H, Chapleau A, Le A, Fournier S, Emari F, Flamini R, Rossi A, Gentile A, Bertini E, Nicita F, Pohl D, Venkateswaran S, Keller S, Rossignol E, Renaud D, Assis Pereira D, Chen X, Vanderver A, Bernard G.   +19 more
europepmc   +1 more source

UPLC-MS/MS High-Risk Screening for Sphingolipidoses Using Dried Urine Spots. [PDF]

Biomolecules
Martineau T, Maranda B, Auray-Blais C.
europepmc   +1 more source

Phytoconstituents of Withania somnifera (L.) Dunal (Ashwagandha) unveiled potential cerebroside sulfotransferase inhibitors: insight through virtual screening, molecular dynamics, toxicity, and reverse pharmacophore analysis. [PDF]

J Biol Eng
Singh N, Singh AK.
europepmc   +1 more source

Gallbladder polyps in association with metachromatic leukodystrophy

Journal of Pediatric Surgery Case Reports, 2020
Eduje Thomas, Tommaso Gargano, Michele Libri, Giovanni Ruggeri, Nunzio Salfi, Elisa Mazzoni, Mario Lima   +6 more
doaj  

Imaging in atypical van der knaap disease with subependymal nodular heterotopia: A case report. [PDF]

Radiol Case Rep
V P, S C S, R D, C V M.
europepmc   +1 more source

Gene therapy for the leukodystrophies: From preclinical animal studies to clinical trials. [PDF]

Neurotherapeutics
Metovic J, Li Y, Gong Y, Eichler F.
europepmc   +1 more source