Explanipedia

A Novel Pathogenic Variant Identified in HIKESHI-Related Hypomyelinating Leukodystrophy Disrupts Heat Shock Response in iPSCs Open

Mahmood Ali Saleh, Maria Boichuck, Aner Ottolenghi, Tatiana Rabinski, Omri Goldenthal , et al. · 2025

HIKESHI-related hypomyelinating leukodystrophy (HHL) is a life-threatening disorder caused by homozygous pathogenic variants in HIKESHI. Symptoms include infantile onset progressive spastic dystonic quadriplegia, nystagmus, failure to thri…

Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophy Open

Daphne H. Schoenmakers, Marije A B C Asbreuk, Tamara J. Martin, Mareen R. Datema, Shanice Beerepoot , et al. · 2025

The MLD treatment eligibility panel demonstrates how international expert advice can be streamlined across Europe for a rare disease like MLD, where disease-specific guidelines are still in development. By balancing complex clinical, socia…

Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series Open

Gaofeng Zhu, Blaise Didry‐Barca, Luís Seabra, Gillian Rice, Carolina Uggenti , et al. · 2025

Gene therapy in advanced metachromatic leukodystrophy: tempering expectations Open

Daphne H. Schoenmakers, Shanice Beerepoot, Laura Adang, Marije A B C Asbreuk, Caroline G. Bergner , et al. · 2024

Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States Open

Laura Adang, Joshua L. Bonkowsky, Jaap Jan Boelens, Eric J. Mallack, Rebecca C. Ahrens‐Nicklas , et al. · 2024

Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management Open

Lucia Laugwitz, Daphne H. Schoenmakers, Laura Adang, Stefanie Beck‐Woedl, Caroline Bergner , et al. · 2024

Metachromatic leukodystrophy (MLD) is a rare autosomal recessive lysosomal storage disorder resulting from arylsulfatase A enzyme deficiency, leading to toxic sulfatide accumulation. As a result affected individuals exhibit progressive neu…

Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries Open

Daphne H. Schoenmakers, Fanny Mochel, Laura Adang, Jaap Jan Boelens, Valeria Calbi , et al. · 2024

Background For decades, early allogeneic stem cell transplantation (HSCT) has been used to slow neurological decline in metachromatic leukodystrophy (MLD). There is lack of consensus regarding who may benefit, and guidelines are lacking. C…

Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi) Open

Daphne H. Schoenmakers, Shanice Beerepoot, Sibren van den Berg, Laura Adang, Annette Bley , et al. · 2022

Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy Open

Guy Helman, Ayelet Zerem, Akshata Almad, Julia Hacker, Sarah Woidill , et al. · 2021

Clinical phenotypes of infantile onset CACNA1A-related disorder Open

Tamar Gur-Hartman, Oren Berkowitz, Keren Yosovich, Agathe Roubertie, Ginevra Zanni , et al. · 2020

Table of Contents, Volume 182A, Number 1, January 2020 Open

Tonie Kline, Ian D. Krantz, John M. Carey, Shirley Cheng, Ho‐Ming Luk , et al. · 2019

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies Open

Laura Adang, Omar Sherbini, Laura J. Ball, Miriam Bloom, Anil Darbari , et al. · 2017

The molecular and phenotypic spectrum of <i><span>IQSEC</span>2</i>‐related epilepsy Open

Ayelet Zerem, Kazuhiro Haginoya, Dorit Lev, Lubov Blumkin, Sara Kivity , et al. · 2016

Summary Objective IQSEC 2 is an X‐linked gene associated with intellectual disability ( ID ) and epilepsy. Herein we characterize the epilepsy/epileptic encephalopathy of patients with IQSEC 2 pathogenic variants. Methods Forty‐eight patie…

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