Results 141 to 150 of about 24,692 (277)

The spectrum of leukodystrophies in children: Experience at a tertiary care centre from North India

Annals of Indian Academy of Neurology, 2016
Objective: The objective of this study is to retrospectively collect and then describe the clinico-radiographical profile of confirmed cases of leukodystrophy who presented over a 5-year period to a tertiary care teaching hospital in North India ...
Sheffali Gulati, Puneet Jain, Biswaroop Chakrabarty, Atin Kumar, Neerja Gupta, Madhulika Kabra   +5 more
doaj   +1 more source

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

Phenotypic variation between siblings with Metachromatic Leukodystrophy

Orphanet Journal of Rare Diseases, 2019
BackgroundMetachromatic Leukodystrophy (MLD) is a rare autosomal-recessive lysosomal storage disorder caused by mutations in the ARSA gene. While interventional trials often use untreated siblings as controls, the genotype-phenotype correlation is only ...
Saskia Elgün, J. Waibel, C. Kehrer, Diane F. van Rappard, J. Böhringer, S. Beck-Wödl, J. Just, L. Schöls, N. Wolf, I. Krägeloh-Mann, S. Groeschel   +10 more
semanticscholar   +1 more source

Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Riboflavin (RF, vitamin B2) is an essential vitamin of which the co‐factors are critical to numerous cellular processes. RF is used as a treatment for inherited metabolic diseases (IMDs), although its effectiveness in many disorders has not been established.
Bregje Jaeger, Nina N. Stolwijk, Femke Aaldering, Charlotte A. Ruys, Marije Smits, Nicole I. Wolf, Carla E. M. Hollak, Annet M. Bosch   +7 more
wiley   +1 more source

The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis

Molecular Brain, 2019
Recessive mutations in the ubiquitously expressed POLR3A and POLR3B genes are the most common cause of POLR3-related hypomyelinating leukodystrophy (POLR3-HLD), a rare childhood-onset disorder characterized by deficient cerebral myelin formation and ...
K. Choquet, M. Pinard, Sharon X. C. Yang, R. Moir, Christian Poitras, M. Dicaire, Nicolas Sgarioto, R. Larivière, C. Kleinman, I. Willis, M. Gauthier, B. Coulombe, B. Brais   +12 more
semanticscholar   +1 more source

Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature

Frontiers in Genetics
The leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by infantile-onset macrocephaly and chronic edema of the brain white matter.
Emma M. J. Passchier, Emma M. J. Passchier, Quinty Bisseling, Quinty Bisseling, Guy Helman, Rosalina M. L. van Spaendonk, Cas Simons, Cas Simons, René C. L. Olsthoorn, Hieke van der Veen, Hieke van der Veen, Truus E. M. Abbink, Marjo S. van der Knaap, Marjo S. van der Knaap, Rogier Min, Rogier Min   +15 more
doaj   +1 more source

Diagnosis and Metabolic Management of Adult Refsum Disease: Guidance From the Medical and Scientific Committee of Global DARE (Defeat Adult Refsum Everywhere)

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Adult Refsum disease (ARD; OMIM 266510) is a degenerative autosomal recessive condition typically diagnosed in adulthood. It affects visual, auditory and nervous system function. It is characterised by plasma, neuro‐ophthalmological and adipose tissue accumulation of the dietary‐derived phytanic acid (PA).
Radha Ramachandran, Raphael Buttigieg, Florian Eichler, Bart P. Leroy, Omar Mahroo, Rachel M. Huckfeldt, Sarah Firman, Eleanor Baldwin, Kristie DeMarco, Susan Kuranoff, Amena Fine, Reinhard Klingel, Sacha Ferdinandusse, Joseph G. Hacia, Ronald J. Wanders, Anthony S. Wierzbicki   +15 more
wiley   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum

Annals of Clinical and Translational Neurology, 2019
Biallelic variants in RARS1, encoding the cytoplasmic tRNA synthetase for arginine (ArgRS), cause a hypomyelinating leukodystrophy. This study aimed to investigate clinical, neuroradiological and genetic features of patients with RARS1‐related disease ...
Marisa I. Mendes, L. Green, E. Bertini, D. Tonduti, C. Aiello, Desirée E. C. Smith, E. Salsano, Shanice Beerepoot, J. Hertecant, S. von Spiczak, J. Livingston, Lisa Emrick, Jamie L Fraser, L. Russell, G. Bernard, S. Magri, D. Di Bella, F. Taroni, M. Koenig, I. Moroni, G. Cappuccio, N. Brunetti‐Pierri, Jullie Rhee, Bryce A. Mendelsohn, I. Helbig, K. Helbig, H. Muhle, O. Ismayl, A. Vanderver, G. Salomons, M. S. van der Knaap, N. Wolf   +31 more
semanticscholar   +1 more source

A Scoping Review of Non‐Opioid Therapeutics for Opioid Withdrawal: Translational Relevance to Neonatal Opioid Withdrawal Syndrome (NOWS) Research

Clinical and Translational Science, Volume 19, Issue 5, May 2026.
ABSTRACT In the wake of the ongoing opioid epidemic, the incidence of neonatal opioid withdrawal syndrome (NOWS) has surged. While the short‐term effects of NOWS are well‐characterized, long‐term physiological and molecular consequences remain unclear.
Sara L. Mills‐Huffnagle, Oliver M. Lowden, Rhea E. Sullivan, Taryn E. McFadden, Jennifer E. Nyland   +4 more
wiley   +1 more source