Results 71 to 80 of about 1,141,621 (185)

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

A Very Rare Case of Colpocephaly Associated With Trisomy 18

Gynecology Obstetrics & Reproductive Medicine, 2012
We presented a very rare case of colphocephaly which is a term used to describe a congenital abnormal enlargement of the occipital horns of the lateral ventricules associated with normal frontal horns.
Seyfettin Uludağ, Yavuz Aydın, Begüm Aydoğan, Burcu Aydın   +3 more
doaj  

Phosphomevalonate kinase is a cytosolic protein in humans

Journal of Lipid Research, 2004
In the past decade, a predominant peroxisomal localization has been reported for several enzymes functioning in the presqualene segment of the cholesterol/isoprenoid biosynthesis pathway.
Sietske Hogenboom, John J.M. Tuyp, Marc Espeel, Janet Koster, Ronald J.A. Wanders, Hans R. Waterham   +5 more
doaj   +1 more source

Oral pretreatment with Escherichia coli Nissle 1917 enhances the host's defense against influenza A virus infection

mLife, Volume 4, Issue 6, Page 664-680, December 2025.
Abstract Influenza A viruses (IAVs) pose a significant threat to global health, causing annual epidemics and occasional pandemics with substantial morbidity and mortality. Despite the availability of vaccines and antiviral therapies, the development of novel preventive and therapeutic strategies remains a critical research focus.
Di Wang, Longhai Yu, Qi Lu, Meiqing Han, Baikui Wang, Xianqi Peng, Min Yue, Yan Li   +7 more
wiley   +1 more source

Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal α-methylacyl-CoA racemase deficiency

Journal of Lipid Research, 2001
We identified a new peroxisomal disorder caused by a deficiency of the enzyme α-methylacyl-coenzyme A (CoA) racemase. Patients with this disorder show elevated plasma levels of pristanic acid and the bile acid intermediates di- and trihydroxycholestanoic
Sacha Ferdinandusse, Henk Overmars, Simone Denis, Hans R. Waterham, Ronald J.A. Wanders, Peter Vreken   +5 more
doaj   +1 more source

Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Movement disorders are common in inherited metabolic diseases (IMDs) and significantly impact quality of life. Unfortunately, they are often underrecognised by metabolic physicians. This study investigated whether a new screening tool improves recognition of movement disorders in IMD patients by non‐neurologists.
Ellen M. Hulshof, Hugo P. Lantinga, Gonnie Alkemade, Annet M. Bosch, Marion M. Brands, Danique Draaisma‐van Vliet, Andrea B. Haijer‐Schreuder, Eva M. M. Hoytema van Konijnenburg, Mirian C. H. Janssen, Melanie M. van der Klauw, Mirjam Langeveld, Charlotte M. A. Lubout, Sonja L. van Ockenburg, Esmeralda Oussoren, Bianca Panis, Barbara Sjouke, Maaike de Vries, Margreet A. E. M. Wagenmakers, Mark Wijnen, Deborah A. Sival, Marina A. J. Tijssen, Tom J. de Koning, Lisette H. Koens   +22 more
wiley   +1 more source

Zellweger syndrome, retinal involvement.

, 1989
Progresses in biochemistry permit one to distinguish three biochemical forms of Zellweger Syndrome: 1) hyperpipecolic acidemia, 2) neonatal adrenoleukodystrophy, and 3) infantile Refsum's disease, which have similar clinical manifestations. A seven-month-
Stanescu-Segal, B., Evrard, Philippe
core  

in a patient with Zellweger syndrome

, 2021
The peroxisome is responsible for a variety of vital pathways in primary metabolism, including the very long-chain fatty-acid oxidation and plasmalogen lipid biosynthesis.
Hashemi, Motahare Sadat, Shafeghati, Yousef, Yousef Shafeghati, Farzaneh Jalalypour, Jalalypour, Farzaneh, Motahare‐Sadat Hashemi, Marzieh Alamatsaz, Alamatsaz, Marzieh, Nasr-Esfahani, Mohammad Hossein, Ghaedi, Kamran, Mohammad Hossein Nasr‐Esfahani, Kamran Ghaedi   +11 more
core   +1 more source

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón, Nuria Carreras, Tobias Muehlbacher, Dídac Casas‐Alba, Roberta Arena, Paola Roca‐Llabrés, Juan Navarro‐Morón, Linda S. de Vries, Paul Govaert, the EurUS.Brain group, Thais Agut, Roberta Arena, Ana Alarcón, Juan Arnáez, Marco Bartocci, Isabel Benavente‐Fernández, María Carmen Bravo, Fernando Cabañas, Nuria Carreras, Olivier Claris, Jeroen Dudink, Monica Fumagalli, Alfredo García‐Alix, Paul Govaert, Sandra Horsch, Simón Lubián, Tobias Muehlbacher, Alessandro Parodi, Adelina Pellicer, Luca Ramenghi, Charles C. Roehr, Simone Schwarz, Sylke Steggerda, Eva Valverde   +33 more
wiley   +1 more source

Localization of nervonic acid β-oxidation in human and rodent peroxisomes: impaired oxidation in Zellweger syndrome and X-linked adrenoleukodystrophy

Journal of Lipid Research, 1998
Studies with purified subcellular organelles from rat liver indicate that nervonic acid (C24:1) is β-oxidized preferentially in peroxisomes. Lack of effect by etomoxir, inhibitor of mitochondrial β-oxidation, on β-oxidation of lignoceric acid (C24:0), a ...
Rajat Sandhir, Mushfiquddin Khan, Amarjit Chahal, Inderjit Singh   +3 more
doaj   +1 more source