Results 71 to 80 of about 620 (115)

Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide. [PDF]

Mol Genet Metab
Bekri S, Bley A, Brown HA, Chanson C, Church HJ, Gelb MH, Hong X, Janzen N, Kasper DC, Mechtler T, Morton G, Murko S, Oliva P, Tebani A, Wu THY.   +14 more
europepmc   +1 more source

X-ray crystallographic and ligand binding studies of the drug target phosphoglycerate mutase from Leishmania mexicana and Trypanosoma brucei [PDF]

, 2005
Pooperm, Buabarn
core  

Neuraminidase 1 secondary deficiency contributes to CNS pathology in neurological mucopolysaccharidoses via brain protein hypersialylation. [PDF]

J Clin Invest
Xu T, Heon-Roberts R, Moore T, Dubot P, Pan X, Guo T, Cairo CW, Holley RJ, Bigger B, Durcan TM, Levade T, Ausseil J, Amilhon B, Gorelik A, Nagar B, Khan S, Tomatsu S, Sturiale L, Palmigiano A, Röckle I, Thiesler H, Hildebrandt H, Garozzo D, Pshezhetsky AV.   +23 more
europepmc   +1 more source

Biochemical signatures of disease severity in multiple sulfatase deficiency. [PDF]

J Inherit Metab Dis
Adang LA, Mowafy S, Herbst ZM, Zhou Z, Schlotawa L, Radhakrishnan K, Bentley B, Pham V, Yu E, Pillai NR, Orchard PJ, De Castro M, Vanderver A, Pasquali M, Gelb MH, Ahrens-Nicklas RC.   +15 more
europepmc   +1 more source

Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A. [PDF]

Hum Genet
Jain S, Trinidad M, Nguyen TB, Jones K, Neto SD, Ge F, Glagovsky A, Jones C, Moran G, Wang B, Rahimi K, Çalıcı SZ, Cedillo LR, Berardelli S, Özden B, Chen K, Katsonis P, Williams A, Lichtarge O, Rana S, Pradhan S, Srinivasan R, Sajeed R, Joshi D, Faraggi E, Jernigan R, Kloczkowski A, Xu J, Song Z, Özkan S, Padilla N, de la Cruz X, Acuna-Hidalgo R, Grafmüller A, Barrón LTJ, Manfredi M, Savojardo C, Babbi G, Martelli PL, Casadio R, Sun Y, Zhu S, Shen Y, Pucci F, Rooman M, Cia G, Raimondi D, Hermans P, Kwee S, Chen E, Astore C, Kamandula A, Pejaver V, Ramola R, Velyunskiy M, Zeiberg D, Mishra R, Sterling T, Goldstein JL, Lugo-Martinez J, Kazi S, Li S, Long K, Brenner SE, Bakolitsa C, Radivojac P, Suhr D, Suhr T, Clark WT.   +68 more
europepmc   +1 more source

Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS). [PDF]

Genes (Basel)
Hammoud M, Domínguez-Ruiz M, Assiri I, Rodrigues D, Aboussair N, Lanza VF, Villarrubia J, Colón C, Fdil N, Del Castillo FJ.   +9 more
europepmc   +1 more source

Hematopoietic stem cell gene therapy of neurometabolic lysosomal storage diseases.

Brain Dev
Consiglieri G, Tucci F, Bernardo ME.
europepmc   +1 more source

Lentivirus-modified hematopoietic stem cell gene therapy for advanced symptomatic juvenile metachromatic leukodystrophy: a long-term follow-up pilot study. [PDF]

Protein Cell
Zhang Z, Jiang H, Huang L, Liu S, Zhou X, Cai Y, Li M, Gao F, Liang X, Tsang KS, Chen G, Ma CY, Chai YH, Liu H, Yang C, Yang M, Zhang X, Han S, Du X, Chen L, Hwu WL, Zhuo J, Lian Q.   +22 more
europepmc   +1 more source

A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency. [PDF]

Mol Genet Metab
Pham V, Sertori Finoti L, Cassidy MM, Maguire JA, Gagne AL, Waxman EA, French DL, King K, Zhou Z, Gelb MH, Wongkittichote P, Hong X, Schlotawa L, Davidson BL, Ahrens-Nicklas RC.   +14 more
europepmc   +1 more source

A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms. [PDF]

NPJ Genom Med
Chapleau A, Perrier S, Durcan TM, Bernard G.   +3 more
europepmc   +1 more source