Results 81 to 90 of about 2,498 (170)

Expert‐Designed Fact Sheets and AI‐Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Aline Cano, Xiaoyi Chen, Azza Khemiri, Anais Brassier, Arnoux Jean‐Baptiste, Roseline Froissart, Juliette Bouchereau, Célia Hoebeke, Karin Mazodier, Bénédicte Héron, Philippe Labrune, Catherine Caillaud, David Cheillan, Yann Nadjar, Samia Pichard, Apolline Imbard, Magali Pettazzoni, Claire Douillard, Belmatoug Nadia, Anna‐Line Calatayud, Mounira Zerguini, Nicolas Garcelon, Jean‐François Benoist, Cécile Acquaviva, Pascale De Lonlay, the other members of the expert group consortium, Marie‐Thérèse Abi‐Warde, Cécile Acquaviva, Jean‐Baptiste Arnoux, Stéphanie Badiou, Magalie Barth, Nadia Belmatoug, Jean‐François Benoist, Juliette Bouchereau, Anais Brassier, Arnaud Bruneel, Catherine Caillaud, Aline Cano, Brigitte Chabrol, David Cheillan, Emmanuelle Corbe‐Guillard, Christelle Corne, Lena Damaj, Myriam Dao, Pascale De Lonlay, Anne‐Frédérique Dessein, Dries Dobbelaere, Claire Douillard, Thierry Dupré, François Feillet, Roseline Froissart, Margaux Gaschignard, Magali Gorce, Laurent Gouya, Anne‐Sophie Guemann, Bénédicte Héron, Célia Hoebeke, Apolline Imbard, Elsa Kaphan, François Labarthe, Philippe Labrune, Pascal Laforet, Thierry Levade, Elise Lebigot, Edouard Le Guillou, Olivier Lidove, Julien Maquet, Wladimir Mauhin, Clothilde Marbach, Karin Mazodier, Karine Mention, Fanny Mochel, Caroline Moreau, Yann Nadjar, Esther Noel, Mickael Obadia, Cécile Pagan, Magali Pettazzoni, Samia Pichard, Clement Pontoizeau, Aurélia Poujois, Isabelle Redonnet‐Vernhet, Frédérique Sabourdy, Manuel Schiff, Christine Serratrice, Aude Servais, Caroline Sevin, Anne Spraul, Bénédicte Sudrié, Marine Tardieu, Sandrine Vuillaumier, Camille Wicker, Arnaud Wiedemann‐Fode, Vincent Barlogis, Nathalie Boddaert, Kanetee Busiah, Annabelle Chaussenot, Dominique Debray, Céline Falaise, Muriel Girard, Dalila Habes, Annie Harroche, Florence Lacaille, Mehdi Oualha, Caroline Ovaert, Rachel Reynaud, Caroline Rousset‐Rouvière, Cécile Rouzier, Karim Wahbi   +108 more
wiley   +1 more source

Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations

, 2009
The neuronal ceroid lipofuscinoses are a heterogeneous group of inherited degenerative disorders of the central nervous system. Cases of ceroid lipofuscinosis with cytoplasmic storage of granular osmiophilic deposits are associated with reduced activity ...
Tessa, A., Bonsignore, M., Simonati, A., Santorelli, F. M., Tozzi, G., Biancheri, R., Grosso, Salvatore, Veneselli, E., Bernardina, B. D., Piemonte, F.   +9 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

Evaluation of Visual Pathways in Children with Neuronal Ceroid Lipofuscinosis: Diffusion Tensor Imaging Findings

Objective: The aim of our study is to evaluate whether there were any diffusion tensor imaging (DTI) parameter changes in the visual pathways in children with neuronal ceroid lipofuscinosis (NCL) for the early detection of visual pathway damage ...
Gözde Yeşil Sayın, Bahar Atasoy, Akın İşcan, Hafize Otcu Temur, Alpay Alkan   +4 more
core   +1 more source

Age at onset and gene variants predict lifespan and disease duration in childhood neuronal ceroid lipofuscinoses

Developmental Medicine &Child Neurology, Volume 68, Issue 2, Page 276-286, February 2026.
This original article is commented on by Mole on pages 156–157 of this issue. Abstract Aim To address disease progression in a cohort of patients with childhood‐onset neuronal ceroid lipofuscinosis (NCL), a group of genetic disorders leading to progressive dementia. Method In this retrospective study, selected clinical features (age at onset, at death,
Alessandro Simonati, Francesco Pezzini, Nardo Nardocci, CLNet Consortium, C Aiello, R Battini, R Biancheri, M Bonsignore, R Carrozzo, B Dalla Bernardina, S Della Vecchia, S Doccini, A Donati, M Filocamo, B Garavaglia, T Granata, S Grosso, AM Laverda, V Leuzzi, C Marini, M Mastrangelo, T Messena, M Salandin, S Sartori, N Specchio, P Striano, F Taioli, A Tessa, E Veneselli, Filippo M. Santorelli   +29 more
wiley   +1 more source

Retinal Degeneration In A Mouse Model Of CLN5 Disease Is Associated With Compromised Autophagy

Scientific Reports, 2017
The Finnish variant of late infantile neuronal ceroid lipofuscinosis (CLN5 disease) belongs to a family of neuronal ceroid lipofuscinosis (NCLs) diseases. Vision loss is among the first clinical signs in childhood forms of NCLs.
Henri Leinonen, Velta Keksa-Goldsteine, Symantas Ragauskas, Philip Kohlmann, Yajuvinder Singh, Ekaterina Savchenko, Jooseppi Puranen, Tarja Malm, Giedrius Kalesnykas, Jari Koistinaho, Heikki Tanila, Katja M. Kanninen   +11 more
doaj   +1 more source

Neuronal Ceroid-Lipofuscinosis in a Holstein Steer

, 2005
A young, partially blind Holstein steer was affected by mild cerebral atrophy. Formalin-fixed cerebral gray matter was diffusely yellow brown. Microscopically, there were eosinophilic, autofluorescent granules primarily in the cytoplasm of cerebral ...
S. Hafner, J. E. Hill, S. Flynn, B. G. Harmon   +3 more
core   +1 more source

Neuronal Ceroid-Lipofuscinosis in a Labrador Retriever

, 2003
An 8-year-old Labrador Retriever with an 11-month history of progressive partial seizures and necropsy examination findings characteristic of the lamellar form of canine neuronal ceroid-lipofuscinosis (NCL) is presented. The clinical, light microscopic,
John H. Rossmeisl, Erin S. Herring, Robert Duncan, Jonathan Fox, Karen D. Inzana   +4 more
core   +1 more source

Adult-onset neuronal ceroid lipofuscinosis in a smooth-haired dachshund [PDF]

A 5-year-old, smooth-haired miniature dachshund exhibited a progressive history of frequent episodes of aggression towards objects, head pressing, circling and intermittent pelvic limb ataxia over a period of 2 weeks.
Gouveia, D, Foreman, M, Cloup, E
core   +1 more source

Measles Vaccine and Encephalopathy

Pediatric Neurology Briefs, 1998
The relationship between acute encephalopathy followed by permanent brain injury or death associated with further attenuated measles vaccine was evaluated in 48 children, ages 10 to 49 months, reported to the National Vaccine Injury Compensation Program,
J Gordon Millichap
doaj   +1 more source