Results 71 to 80 of about 15,339 (211)
Leigh syndrome: One disorder, more than 75 monogenic causes. [PDF]
, 2016 Leigh syndrome is the most common pediatric presentation of mitochondrial disease. This neurodegenerative disorder is genetically heterogeneous, and to date pathogenic mutations in >75 genes have been identified, encoded by 2 genomes (mitochondrial and ...
Rahman, S +7 more
core +1 more source
Journal of Child Psychology and Psychiatry, Volume 66, Issue 4, Page 516-546, April 2025.Proliferation of the term “emotion dysregulation” in child psychopathology parallels the growing interest in processes that influence negative emotional reactivity. While it commonly refers to a clinical phenotype where intense anger leads to behavioral dyscontrol, the term implies etiology because anything that is dysregulated requires an impaired ...
Joseph C. Blader +2 more
wiley +1 more source
Unusual findings in Leigh syndrome caused by T8993C mutation
, 2009 The pathological nature of Leigh syndrome is highly variable and depends on the underlying mitochondrial or nuclear genome defect. Mitochondrial m.8993T>G and m.8993T>C mutations are responsible for both NARP (neurogenic weakness, ataxia and retinitis ...
ÖZER, ERDENER +6 more
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Bilateral hypertrophic olivary nucleus degeneration on magnetic resonance imaging in children with Leigh and Leigh-like syndrome [PDF]
, 2014 Objective: Bilateral hypertrophic olivary degeneration on brain MRI has been reported in a few metabolic, genetic and neurodegenerative disorders, including mitochondrial disorders.
Taly, A. B. +11 more
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EEG findings in SERAC1‐related MEGD(H)EL syndrome
Epileptic Disorders, EarlyView.
Apurva Patel, Dalila Lewis, Thomas Koch
wiley +1 more source
Journal of Psychiatric and Mental Health Nursing, EarlyView.ABSTRACT Introduction Understanding how belief systems, or their absence, shape healthcare experiences is crucial for developing equitable and inclusive healthcare services. Aim This study aimed to explore the healthcare experiences and expectations of atheists, deists and agnostics residing in Türkiye, with a focus on their mental well‐being.
Güven Soner, Emel Güven, Ercan Tunç
wiley +1 more source
, 2007 A 21-year-old previously-well woman who was undergoing medical investigations for problems with balance and suspected multiple sclerosis, developed a headache and breathing difficulties, and died suddenly and unexpected at home.
Wick, Regula +2 more
core
Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy
Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva +5 more
wiley +1 more source
Head Trauma as a Precipitating Factor for Late-onset Leigh Syndrome: a Case Report
Archives of Academic Emergency Medicine, 2017 Leigh syndrome is a severe progressive neurodegenerative disorder with different clinical presentationsthat usually becomes apparent in the first year of life and rarely in late childhood and elderly years.
Farzad Ashrafi +3 more
doaj +1 more source
Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.ABSTRACT Propionic acidemia (PA) is a rare inherited metabolic disorder associated with recurrent metabolic decompensations and chronic multisystemic complications. Liver transplantation (LT) may improve metabolic stability, but its long‐term impact on organ involvement remains debated.
Tristan Mekdade +25 more
wiley +1 more source