Results 181 to 190 of about 14,004 (249)

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

Biosynthesis and maturation of arylsulfatase B in normal and mutant cultured human fibroblasts.

, 1983
F. Steckel, Andrej Hasilík, Kurt Von Figura   +2 more
openalex   +1 more source

Prenatal exposure to Bisphenol-A as a risk factor for infant neurodevelopment. [PDF]

Front Endocrinol (Lausanne)
Bello-Cortes IH, García-García JA, Gutiérrez-Aguilar M, Araiza-Olivera D, Sánchez-Pérez C, García-Cerón G, Morán-Ramos S, Tovar H, Bonilla-Brunner A, García-Arrazola R.   +9 more
europepmc   +1 more source

Gene Expression Analysis by Arylsulfatase Assays in the Green Alga Chlamydomonas reinhardtii

, 2018
Ian K. Blaby, Crysten E. Blaby‐Haas
openalex   +2 more sources

Detection of inversion with breakpoints in ARSB causing MPS VI by whole-genome sequencing: lessons learned and best practices. [PDF]

Front Genet
Huang Y, Deng W, Huang H, Zhang X, Chen X, Ye J, Luo S, Yu T, Yao H, Du H, He X.   +10 more
europepmc   +1 more source

Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A

Shantanu Jain, Marena Trinidad, Thanh Nguyen, Kaiya Jones, Santiago Diaz Neto, Fang Ge, Ailin Glagovsky, Cameron Jones, Giankaleb Moran, Boqi Wang, Kobra Rahimi, Sümeyra Zeynep Çalıcı, Luis R. Cedillo, Silvia Berardelli, Buse Özden, Ken Chen, Panagiotis Katsonis, Amanda M. Williams, Olivier Lichtarge, Sadhna Rana, Swatantra Pradhan, Rajgopal Srinivasan, Rakshanda Sajeed, Dinesh Joshi, Eshel Faraggi, Robert L. Jernigan, Andrzej Kloczkowski, Jierui Xu, Zigang Song, Selen Özkan, Natàlia Padilla, Xavier de la Cruz, Rocío Acuña‐Hidalgo, Andrea Grafmüller, Laura T. Jiménez Barrón, Matteo Manfredi, Castrense Savojardo, Giulia Babbi, Pier Luigi Martelli, Rita Casadio, Yuanfei Sun, Shaowen Zhu, Yang Shen, Fabrizio Pucci, Marianne Rooman, Gabriel Cia, Daniele Raimondi, Pauline Hermans, Sofia Kwee, Ella Chen, Courtney Astore, Akash Kamandula, Vikas Pejaver, Rashika Ramola, Michelle Velyunskiy, Daniel Zeiberg, Reet Mishra, Teague Sterling, Jennifer Goldstein, Jose Lugo-Martinez, Sufyan Kazi, Sindy Li, Kinsey Long, Steven E. Brenner, Constantina Bakolitsa, Predrag Radivojac, Dean Suhr, Teryn Suhr, Wyatt T. Clark   +68 more
openalex   +2 more sources

Effects of Intercropped Insectary Plants (Sweet Alyssum, Coriander, and White Mustard) on Elemental Composition and Antioxidant Levels in Broad Bean Plants. [PDF]

Molecules
Gospodarek J, Tamiru G, Nadgórska-Socha A, Kandziora-Ciupa M, Paśmionka IB.   +4 more
europepmc   +1 more source

How do different cell populations orchestrate myelin regeneration? [PDF]

Biochem Soc Trans
Grassi S, Prinetti A.
europepmc   +1 more source

A novel homozygous <i>PSAP</i> mutation identified by whole exome sequencing in a consanguineous family with metachromatic leukodystrophy: a case report. [PDF]

J Int Med Res
Li X, Kuang X, Huang G, Liu Z, Yan S.
europepmc   +1 more source

Exploring sphingolipid metabolism-related biomarkers for Parkinson's disease: a transcriptomic analysis. [PDF]

Front Neurol
Wang G, Zhou X.
europepmc   +1 more source