Results 31 to 40 of about 2,687 (100)

Correlation Analysis of Clinical, Imaging, and Genetic Etiologies in Pediatric Hereditary Cerebellar Atrophy: A Single‐Center Study

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
We identified predictors of early onset and poor prognosis in childhood cerebellar atrophy. Our findings advocate for a shift towards early, targeted diagnostic strategies based on genetic and imaging profiles. ABSTRACT Objective To investigate the associations among clinical features, neuroimaging findings, and genetic data in children with hereditary
Luyao Jin, Shuling Chen, Ying Liu, Renyi She, Wei Jiang   +4 more
wiley   +1 more source

Hyperlactatemia following pesticide exposure. [PDF]

World J Emerg Med
Ali Nour A, Jiang Z, Jiang Z, Zhou Y, Peng A, Zhang S, Cao Y.   +6 more
europepmc   +1 more source

Pyruvate Dehydrogenase Complex Deficiency: A Review of Treatments and Case Series. [PDF]

Int J Mol Sci
Betesh-Abay B, Shany E, Staretz-Chacham O, Shelef I, Azab AN.   +4 more
europepmc   +1 more source

Towards Next-Generation Sequencing as a First-Tier Diagnostic Test for Fructose-1,6-Bisphosphatase Deficiency. [PDF]

Metabolites
Yazbeck N, Barhoumi A, Karam PE.
europepmc   +1 more source

Mitochondrial Dysfunction in Propionic Acidemia: A Case-Report and Review of the Literature. [PDF]

JIMD Rep
Walther BK, Murray BM, Pandiyan P, Ray R, Yeoh L, Kritzer A.   +5 more
europepmc   +1 more source

Mitochondrial dysfunction in methylmalonic acidemia: A pilot study using Seahorse technology in peripheral blood. [PDF]

Mol Genet Metab Rep
Stanescu S, Villate O, Andrade F, Gonzalez-Lamuño D, Bélanger-Quintana A, Arrieta F, Couce ML, Muriel A, Aldamiz-Echevarria L.   +8 more
europepmc   +1 more source

[Inborn errors of pyruvic and lactic acid metabolism in children].

Srpski arhiv za celokupno lekarstvo, 1984
D, Vulovic, Lj, Stojanov, B, Marjanović, M, Pajković, D, Zamurović, M, Djurić   +5 more
openaire   +1 more source

Tipping the balance: innate and adaptive immunity in mitochondrial disease. [PDF]

Curr Opin Immunol
Phillip West A, McGuire PJ.
europepmc   +1 more source

Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases. [PDF]

J Inherit Metab Dis
Cano A, Chen X, Khemiri A, Brassier A, Jean-Baptiste A, Froissart R, Bouchereau J, Hoebeke C, Mazodier K, Héron B, Labrune P, Caillaud C, Cheillan D, Nadjar Y, Pichard S, Imbard A, Pettazzoni M, Douillard C, Nadia B, Calatayud AL, Zerguini M, Garcelon N, Benoist JF, Acquaviva C, De Lonlay P, other members of the expert group consortium.   +25 more
europepmc   +1 more source

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography. [PDF]

Dev Med Child Neurol
Alarcón A, Carreras N, Muehlbacher T, Casas-Alba D, Arena R, Roca-Llabrés P, Navarro-Morón J, de Vries LS, Govaert P, EurUS.Brain group.   +9 more
europepmc   +1 more source