Results 51 to 60 of about 6,190 (205)

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

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece

Clinical Genetics, Volume 109, Issue 5, Page 837-846, May 2026.
We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Georgios Koutsis, Viorica Chelban, Chrisoula Kartanou, Zoi Kontogeorgiou, Chrysoula Koniari, Nikolaos Ragazos, Charalampos Voudommatis, Kristina Zhelcheska, David S. Lynch, Reza Maroofian, Ehsan Barkhordari, Rahema Mohammad, Ioannis Zaganas, Minas Drakos, Georgia Xiromerisiou, Efthymios Dardiotis, Leonidas Stefanis, Marios Panas, Henry Houlden, Georgia Karadima   +19 more
wiley   +1 more source

Medicine Development and Access for Rare Diseases: Can We Do Better?

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Recent advances in molecular biology and genomics have significantly enhanced our understanding of rare diseases. While enabling the development of highly targeted therapies, it also leads to complexity in the development, regulation, and accessibility of orphan medicines.
Carla E. M. Hollak, Noa Rosenberg, Colinda Post, Nina Stolwijk, Evert Manders, Daphne Schoenmakers, Bart Penninx, Niels Reijnhout, Kathelijn Verdeyen, Roel Jonker, Annet M. Bosch, Mirjam Langeveld, Vincent van der Wel, Saco de Visser, Sibren van den Berg   +14 more
wiley   +1 more source

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source

Homozygous familial hypercholesterolemia

Indian Journal of Endocrinology and Metabolism, 2012
Familial hypercholesterolema (FH) is an inherited autosomal dominant disorder of lipid metabolism. We report a 3 years old female child who presented with multiple eruptive xanthomatosis of skin since 6 months of age and had deranged lipid profile ...
Ravi Kumar Parihar, Mohd. Razaq, Ghanshyam Saini   +2 more
doaj   +1 more source

Incidental Diagnosis of Erdheim–Chester Disease in a 42‐Year‐Old Man With Persistent Elevated ESR and Peri‐Ocular Xanthomas: A Case Report

Clinical Case Reports, Volume 14, Issue 2, February 2026.
A 42‐year‐old man with persistent ESR elevation and peri‐ocular xanthomas was diagnosed with Erdheim–Chester disease via biopsy of the accessible cutaneous lesion, supported by characteristic “hairy kidney” imaging and symmetric skeletal uptake.
Mohammad Rahimi, Alireza Ghanadan, Nooshin Shirzad, Mehrnaz Doostmohammadi, Mahboobeh Hemmatabadi   +4 more
wiley   +1 more source

Cerebrotendinous xanthomatosis

, 2015
A case of cerebrotendinous xanthomatosis in an Indonesian male, 25 years of age, is reported. The diagnosis was based on clinical features, laboratory and histopathologic examinations, without measurement of cholestanal concentration either in the plasma
Soedarmadji, Soedarmadji
core   +1 more source

A Case Report of Xanthogranulomatous Cystitis

Urology Case Reports, 2017
Xanthogranulomatous cystitis (XC) is a chronic granulomatous inflammation with rare incidence. Herein, we report a 62-year-old female whose cystoscopic biopsy showed chronic inflammation accompanied with acute episode of inflammation.
Chen Pengliang, Ling Fengsheng, Ha Siyao, Lai Wenjie, Li Fei   +4 more
doaj   +1 more source

Cerebrotendinous xanthomatosis

Current Opinion in Lipidology, 2013
Cerebrotendinous xanthomatosis (CTX) is a rare neurological disease characterized by accumulation of cholesterol and cholestanol in brain and tendons caused by a mutation in the sterol 27-hydroxylase gene (CYP27A1). The mechanism behind the accumulation of cholestanol in the brain was recently clarified and a role of 27-hydroxycholesterol as a ...
openaire   +5 more sources

‘What's in a Name?’ Naming Genetically Determined Movement Disorders: Gap and Controversy

Movement Disorders, Volume 41, Issue 2, Page 342-350, February 2026.
Abstract In 2016, the International Parkinson and Movement Disorder Society (MDS) Task Force for Genetic Nomenclature in Movement Disorders laid out a new proposal for naming genetically determined movement disorders. This proposal sought to address the difficulties arising from the practical usage of numbered loci (eg, DYT1, DYT2, DYT3, etc.) as names
Connie Marras, Alberto Albanese, Mark Hallett, Christine Klein, Katja Lohmann, the Genetic Nomenclature in Movement Disorders Study Group Steering Committee, Christos Ganos, Sarah Camargos, Anthony E. Lang, Darius Ebrahimi‐Fakhari, Claudia Del Gamba, Bart van de Warrenburg, Lakshya Basumatary, Lara Lange, Diana Olszewska, Zhidong Cen, Kishore Kumar, Mohamed Zahir, Carolyn Sue, H.A. Jinnah   +19 more
wiley   +1 more source