Comprehensive clinical, biochemical and genetic screening reveals four distinct GBA genotypes as underlying variable manifestation of Gaucher disease in a single family

by P. Cullufi, M. Tabaku, C. Beetz, S. Tomori, V. Velmishi, A. Gjikopulli, P. Bauer, S. Wirth, A. Rolfs
Published 2019-12-01

Bi-directional Mendelian randomization of epithelial ovarian cancer and schizophrenia and uni-directional Mendelian randomization of schizophrenia on circulating 1- or 2-glyceropho...

by Charleen D. Adams, Susan L. Neuhausen
Published 2019-12-01

Single-center experience with Beta-propeller protein-associated neurodegeneration (BPAN); expanding the phenotypic spectrum

by Marisa Chard, Juan Pablo Appendino, Luis E. Bello-Espinosa, Colleen Curtis, Jong M. Rho, Xing-Chang Wei, Walla Al-Hertani
Published 2019-09-01

Drug screening for Pelizaeus-Merzbacher disease by quantifying the total levels and membrane localization of PLP1

by Takeshi Kouga, Shiro Koizume, Shiho Aoki, Eriko Jimbo, Takanori Yamagata, Ken Inoue, Hitoshi Osaka
Published 2019-09-01

Dietary management of maternal phenylketonuria with glycomacropeptide and amino acids supplements: A case report

by A. Pinto, M.F. Almeida, A. Cunha, C. Carmona, S. Rocha, A. Guimas, R. Ribeiro, C.R. Mota, E. Martins, A. MacDonald, J.C. Rocha
Published 2017-12-01

ALG9-CDG: New clinical case and review of the literature

by Kellie Davis, Duncan Webster, Chris Smith, Sheryl Jackson, David Sinasac, Lorne Seargeant, Xing-Chang Wei, Patrick Ferreira, Julian Midgley, Yolanda Foster, Xueli Li, Miao He, Walla Al-Hertani
Published 2017-12-01

Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement

by Ahmed N. Mohammad, Katelyn A. Bruno, S. Hines, Paldeep S. Atwal
Published 2018-06-01

Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population

by Ernie Zuraida Ali, Lock-Hock Ngu
Published 2018-12-01

Quantification of 11 enzyme activities of lysosomal storage disorders using liquid chromatography-tandem mass spectrometry

by Mari Ohira, Torayuki Okuyama, Ryuichi Mashima
Published 2018-12-01

A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia

by Jacqueline A. Romero, Imane Abdelmoumen, Daphne Hasbani, Divya S. Khurana, Michael C. Schneider
Published 2019-12-01

Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)

by Olaf Bodamer, Maurizio Scarpa, Christina Hung, Tom Pulles, Roberto Giugliani
Published 2017-06-01

Aberrant DNA methylation of calcitonin receptor in Fabry patients treated with enzyme replacement therapy

by Anna Hübner, Thomas Metz, Andrea Schanzer, Susanne Greber-Platzer, Chike Bellarmine Item
Published 2015-12-01

The diagnostic journey of patients with mucopolysaccharidosis I: A real-world survey of patient and physician experiences

by Stefano Bruni, Christine Lavery, Alexander Broomfield
Published 2016-09-01

CTNS mutations in publicly-available human cystinosis cell lines

by Artem Zykovich, Renee Kinkade, Gary Royal, Todd Zankel
Published 2015-12-01

Mitochondrial cardioencephalopathy due to a COQ4 mutation

by Josef Finsterer, Sinda Zarrouk-Mahjoub
Published 2017-12-01

Natural history of the late-onset phenotype of Fabry disease due to the p.F113L mutation

by Olga Azevedo, Miguel F. Gago, Gabriel Miltenberger-Miltenyi, Ana Raquel Robles, Maria Antónia Costa, Olga Pereira, Ana Teresa Vide, Gonçalo Castelo Branco, Sónia Simões, Maria José Guimarães, Ana Salgado, Nuno Sousa, Damião Cunha
Published 2020-03-01

Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations

by Dorota Wesół-Kucharska, Magdalena Kaczor, Magdalena Pajdowska, Ewa Ehmke vel Emczyńska-Seliga, Anna Bogdańska, Dariusz Kozłowski, Dorota Piekutowska-Abramczuk, Elżbieta Ciara, Dariusz Rokicki
Published 2020-03-01

Response to “MLASA1 is a poly-phenic but not a di-phenic condition”

by Jeremy Woods, Steven Cederbaum
Published 2020-03-01

Mitochondrial damage and cholesterol storage in human hepatocellular carcinoma cells with silencing of UBIAD1 gene expression

by Carlos R. Morales, Lubov S. Grigoryeva, Xuefang Pan, Luigi Bruno, Gilles Hickson, Michael H. Ngo, Christopher R. McMaster, Mark E. Samuels, Alexey V. Pshezhetsky
Published 2014-01-01

A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype

by Maria Teresa Bonati, Federico Verde, Uros Hladnik, Paola Cattelan, Luca Campana, Chiara Castronovo, Nicola Ticozzi, Luca Maderna, Claudia Colombrita, Sergio Papa, Paolo Banfi, Vincenzo Silani
Published 2017-12-01