Lysine <i>α</i>-ketoglutarate reductase as a therapeutic target for saccharopine pathway related diseases. [PDF]
Front Mol NeurosciValderrama GV, Moreira GA, Arruda P.
europepmc +1 more source
Portal diversion for inborn errors of metabolism: With special reference to glycogen storage disease, Type II hyperlipidemia, and juvenile Gaucher's disease [PDF]
, 1978 Putnam, CW, Starzl, TE
core
Clinical and genetic characterization of intellectual disability
Developmental Medicine &Child Neurology, EarlyView.This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara +14 more
wiley +1 more source
Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders. [PDF]
J Inherit Metab DisMartens J +4 more
europepmc +1 more source
European Journal of Haematology, EarlyView.SAMHD1 regulates intracellular dNTP pools, influencing lentiviral transduction, gene therapy efficiency, and disease progression in pediatric hematological malignancies. Integrated bioinformatics and targeted strategies, including CRISPR and pharmacological inhibition, highlight its therapeutic potential.
Waseem Alzamzami
wiley +1 more source
Endocrine system disturbances in children with inherited metabolic diseases: a narrative review. [PDF]
Front Endocrinol (Lausanne)Tagi VM +10 more
europepmc +1 more source
Equine Veterinary Education, EarlyView.Summary The case report by De Maré et al. 2025 describes a rare but instructive case of bilateral laryngeal paralysis in a newborn Warmblood foal with suspected neonatal encephalopathy (NE). The foal presented with inspiratory stridor from birth and was successfully managed through supportive medical therapy and temporary nasotracheal intubation, with ...
M. Abraham
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Hyperammonemia-Associated Stroke-Like Episodes and Acute Liver Failure in an 11-Month-Old Infant With Probable Ornithine Transcarbamylase Deficiency: Diagnostic and Therapeutic Challenges in a Resource-Limited Setting. [PDF]
CureusZahiri H +4 more
europepmc +1 more source
Therapeutic potential of mesenchymal stem cells in peripheral nerve injuries in horses
Equine Veterinary Education, EarlyView.Summary Peripheral nerve injuries (PNI) in horses represent a significant clinical challenge, frequently associated with functional deficits and reduced athletic performance. Conventional therapeutic approaches, primarily based on anti‐inflammatory treatments and rehabilitation, offer limited efficacy, driving the search for innovative alternatives. In
L. V. de Oliveira Ferreira +1 more
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Shikimate pathway disruption in yeast induces metabolite self‐assembly into toxic aggregates
The FEBS Journal, EarlyView.In Saccharomyces cerevisiae, shikimate pathway disruption induces toxic metabolite assemblies. Deleting ARO4 plus phenylalanine (Phe) feeding causes Phenylalanine accumulation, lowers ARO3 activity, and triggers amyloid‐like fibril formation. Deleting ARO3 plus tyrosine (Tyr) feeding leads to Tyrosine buildup and similar fibril assembly.
Hanaa Adsi +6 more
wiley +1 more source