Results 91 to 100 of about 3,887 (227)

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

Analysis of polymorphic marker rs9384 located in the GCDH gene region associated with glutaricaciduria type 1. [PDF]

, 2016
زمینه و هدف: گلوتاریک اسید یوریای نوع 1 نوعی اختلال متابولیکی عصبی می باشد که در اثر جهش در ژن رمز کننده آنزیم گلوتاریل کوآدهیدروژناز (GCDH) ایجاد می شود.
Badr, Zahra., Jazayeri, Ali., Salehi, Zivar., Vallian-Brojeni, Sadegh.   +3 more
core  

Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease [PDF]

, 2009
Maple syrup urine disease (MSUD) is an inherited disorder of branched-chain amino acid metabolism presenting with lifethreatening cerebral oedema and dysmyelination in affected individuals.
Ara  jo, Ba  os, Cremer, Crome, Daniel, Dhopeshwarkar, Dodd, G. E. Homanics, H. S. Paul, Hariharan, Hauber, Homanics, J. Lazovic, J. M. Flanagan, Jan, K. C. Cheng, K. F. LaNoue, K. Griffin, K. J. Skvorak, Kamei, Killian, Le Masurier, Lowry, Lo  , M. C. Bewley, Mackenzie, McKean, Morton, O'Callaghan, Ouary, Patel, Patel, Regunathan, Schadewaldt, Schmithorst, Schonberger, Sgaravatti, She, SILBERMAN, Simon, Tews, W. J. Zinnanti, Wajner, Williamson, Yudkoff   +44 more
core   +2 more sources

[Glutaric aciduria type I].

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 1992
Glutaric aciduria type I is a congenital metabolic disease caused by an enzymatic defect in the degradation of the amino acids lysine and tryptophane. This article presents five Norwegian patients with this condition. Early clinical features may be similar to those of encephalitis.
A B, Ostensen, O H, Skjeldal, E, Monn, K, Motzfeldt, A, Fossen, E, Jellum, J K, Hald, R, Bostad   +7 more
openaire   +1 more source

FITM2‐Related Siddiqi Syndrome in Two Iranian Siblings

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT We report the first two Iranian siblings with Siddiqi syndrome, carrying a novel likely pathogenic FITM2 variant. Both presented with hallmark features, including early‐onset sensorineural hearing loss, severe generalized dystonia, growth failure, and ichthyosis of the lower limbs, expanding the geographic and genetic spectrum of this rare ...
Raha Ahmadi, Mohammad Javad Bavarsad, Meysam Feizollah Jani, Reza Azizimalamiri   +3 more
wiley   +1 more source

Update on Genetic Chorea

European Journal of Neurology, Volume 32, Issue 10, October 2025.
This review provides an updated clinical and genetic framework for the differential diagnosis of hereditary chorea. It guides neurologists through the interpretation of phenomenology, ancillary tests, and appropriate genetic techniques to achieve an accurate and timely diagnosis.
Jesús Pérez‐Pérez, Gonzalo Olmedo‐Saura, Saül Martínez‐Horta, Sara Bernal, Javier Pagonabarraga, Jaime Kulisevsky   +5 more
wiley   +1 more source

Neurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy Defects: A Systematic Review

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT Inherited metabolic disorders (IMD) can disrupt brain development and functioning, leading to cognitive and behavioral abnormalities. This systematic review aims to provide a comprehensive synthesis of the evidence regarding neurocognitive impairments in intoxication IMD due to the accumulation of small molecule disorders and energy‐related ...
Marta Gil‐González, Carolina Arias, Jean‐Marie Saudubray, Roser Colomé‐Roura, Ángeles García‐Cazorla   +4 more
wiley   +1 more source

New insights for glutaric aciduria type I [PDF]

Brain, 2006
Glutaric aciduria type I (GA-1) is due to recessively inherited glutaryl-CoA dehydrogenase (GCDH) deficiency and causes age-dependent susceptibility to acute striatal necrosis. A better understanding of the cellular and biochemical events underlying striatal damage will be required to prevent this devastating injury.
openaire   +1 more source

Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics. [PDF]

, 2019
Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies ...
Fiehn, Oliver, Ismail, Israa T, Showalter, Megan R   +2 more
core   +2 more sources

Maternal Circulatory NAD Precursor Levels and the Yolk Sac Determine NAD Deficiency‐Driven Congenital Malformation Risk

The FASEB Journal, Volume 39, Issue 14, 31 July 2025.
Maternal circulatory L‐tryptophan (TRP) and nicotinamide (NAM) levels are proportional to dietary TRP intake. Yolk sacs, but not embryos, perform NAD de novo synthesis. This study explores the exchange of NAD precursors between mother and conceptus, and NAD generation in conceptal tissues via the NAD de novo synthesis (blue) or salvage (red) pathways ...
Kayleigh Bozon, Hartmut Cuny, Delicia Z. Sheng, Alena Sipka, Antonia W. Shand, Natasha Nassar, Sally L. Dunwoodie   +6 more
wiley   +1 more source