Results 121 to 130 of about 9,391,147 (295)

An unusual presentation of neurononopathic gauchers disease. [PDF]

, 2013
A six years old male child presented with tremor, ataxia, speech apraxia, supranuclear gaze palsy and hepatosplenomegaly. There was no history of seizures and psycho-cognitive abnormalities.
Chand, Prem, Habib, Bushra, Ibrahim, Shahnaz, jan, Farida   +3 more
core   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Real-world clinical experience with long-term miglustat maintenance therapy in type 1 Gaucher disease: the ZAGAL project

Haematologica, 2009
There are few published data from real-world clinical experience with miglustat (Zavesca®), an oral inhibitor of glucosylceramide synthase, in type 1 Gaucher disease.
Pilar Giraldo, Pilar Alfonso, Koldo Atutxa, María A. Fernández-Galán, Abelardo Barez, Rafael Franco, Dora Alonso, Alejandro Martin, Paz Latre, Miguel Pocovi   +9 more
doaj   +1 more source

Chronic pain in Gaucher disease: skeletal or neuropathic origin?

Orphanet Journal of Rare Diseases, 2017
BackgoundPain is one of the most disabling symptoms of Gaucher disease. It is referred by the majority of Gaucher patients and often persists despite long-term enzyme replacement treatment.
G. Devigili, M. De Filippo, G. Ciana, A. Dardis, C. Lettieri, S. Rinaldo, D. Macor, A. Moro, R. Eleopra, B. Bembi   +9 more
semanticscholar   +1 more source

The dipole potential correlates with lipid raft markers in the plasma membrane of living cells [PDF]

, 2019
K
Batta, Gyula, Kovács, Tamás, Nagy, Péter, Szöllősi, János, Zákány, Florina   +4 more
core   +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

RARE BLOOD DISEASES: GAUCHER DISEASE. CASE DESCRIPTION

, 2023
Т. И. Поспелова, Т. Н. Бабаева   +1 more
openalex   +1 more source

Upregulation of Cytotoxic T-cells in pediatric patients with Gaucher disease [PDF]

, 2022
Asmaa M. Zahran, Khaled Saad, Khalid I. Elsayh, Madleen Adel A. Abdou, Amir M. Abo-Elgheet, Esraa M. Eloseily, Shaimaa M. Khalaf, Shabaan Sror, Faisal‐Alkhateeb Ahmad, Amira Elhoufey, Aliaa Ghandour, Naglaa S. Osman   +11 more
openalex   +1 more source

Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease

Orphanet Journal of Rare Diseases, 2017
BackgroundThe enzymatic replacement therapy (ERT) availability for Gaucher disease (GD) has changed the landscape of the disease, several countries have screening programs. These actions have promoted the early diagnosis and avoided many complications in
M. Andrade-Campos, P. Alfonso, P. Irún, J. Armstrong, C. Calvo, J. Dalmau, María-Rosario Domingo, J. Barberá, Horacio Cano, M. Fernandez-Galan, R. Franco, Inmaculada Gracia, M. Gracia-Antequera, Á. Ibáñez, Francisco Lendinez, M. Madruga, E. Martín‐Hernández, M. O’Callaghan, Alberto Pérez del Soto, Y. D. del Prado, Ignacio Sancho-Val, P. Sanjurjo, M. Pocovi, P. Giraldo   +23 more
semanticscholar   +1 more source

Welcome Pathogens: Transient Heat Dampens Immune Responses to Acibenzolar‐S‐Methyl in Apple Plants

Plant, Cell &Environment, Volume 49, Issue 3, Page 1229-1248, March 2026.
ABSTRACT Climate change affects plant‐pathogen interactions, with disease outcome varying depending on the pathosystem and environmental scenario. In Arabidopsis, a thermo‐sensitive module of salicylic acid (SA) signalling makes immunity vulnerable to heat.
Erwan Chavonet, Bao‐huynh Nguyen, Christelle Heintz, Raphaël Cournol, Jitka Široká, Ondřej Novák, Romain Larbat, Matthieu Gaucher, Marie‐Noëlle Brisset, Florent Pantin, Alexandre Degrave   +10 more
wiley   +1 more source