Results 141 to 150 of about 25,035 (239)
Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease?
JIMD Reports, Volume 67, Issue 2, March 2026.ABSTRACT GM1 gangliosidosis is a lysosomal storage disease (LSD) caused by β‐galactosidase deficiency, characterized by the accumulation of gangliosides in various tissues. Among different GM1 forms (infantile form, late‐infantile and juvenile form, and late‐onset form), the infantile form is the most severe: despite an early clinical onset with rapid ...
Laura Fiori +19 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.We report a novel homozygous pathogenic PGAP3 variant (c.202dupT; p.Cys68fs*2) in a child with hyperphosphatasia and severe neurodevelopmental impairment. Elevated alkaline phosphatase guided diagnosis, expanding the genotypic and phenotypic spectrum of PGAP3‐related HPMRS.
Arash Salmaninejad +10 more
wiley +1 more source
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders [PDF]
, 2017 Andrews, Marisa V +2 more
core +2 more sources
Opportunities for renal genetic evaluation among pregnant patients with kidney disease
Pregnancy, Volume 2, Issue 2, March 2026.Abstract Objective Chronic kidney disease (CKD) can significantly affect pregnancy management and outcomes. Although up to 40% of adults with renal disease have an identifiable genetic cause, most pregnant patients with CKD do not undergo genetic testing, hindering tailored management during and after pregnancy. We assessed which pregnant patients with
Likhita Nandigam +7 more
wiley +1 more source
Angiogenic Biomarkers and Neonatal Outcomes in Suspected Preeclampsia: Retrospective Cohort Study
BJOG: An International Journal of Obstetrics &Gynaecology, Volume 133, Issue 4, Page 779-787, March 2026.ABSTRACT Placental growth factor (PlGF) and soluble fms‐like tyrosine kinase 1 (sFlt1) are two biomarkers associated with placental function and the sFlt‐1/PlGF ratio is frequently used for risk assessment and prediction of preeclampsia in pregnancy. Objective To assess the association between elevated sFlt‐1/PlGF ratio and adverse neonatal outcomes in
Genevieve P. G. Fung +7 more
wiley +1 more source
Aging Cell, Volume 25, Issue 3, March 2026.Interventional therapy and surgical injury induce nuclear dysmorphism and vascular aging. Nuclear dysmorphism is positively associated with vascular aging. Novel PMVs/ZIP4/Zinc/preLamin A axis plays a key role in injury‐induced nuclear dysmorphism and vascular aging.
Tengzhi Ma +11 more
wiley +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 +3 more
wiley +1 more source
Early Intervention in Psychiatry, Volume 20, Issue 3, March 2026.ABSTRACT Aims Eating disorders (EDs) are serious illnesses and a better understanding of initial symptom phases could inform early intervention. This study aims to evaluate duration of untreated eating disorder (DUED) and duration/characteristics of the preceding prodrome period in young people diagnosed with an ED.
Jessica McClelland +5 more
wiley +1 more source
Neuropsychiatric Disease and Treatment, 2015 Álvaro Frías,1,2 Carol Palma,1,2 Núria Farriols,1,2 Laura González2 1FPCEE Blanquerna, Universitat Ramon Llull, Barcelona, 2Adult Outpatient Mental Health Center, Hospital de Mataró – CSdM, Mataró, Spain ...
Frías Á +3 more
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