Results 101 to 110 of about 38,761 (232)
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
Management of Ptosis in Kearns–Sayre Syndrome: A Case Report and Literature Review
Archives of Plastic SurgeryKearns–Sayre syndrome (KSS) is a rare mitochondrial disease that affects young adults, due to a deletion of mitochondrial DNA and characterized by the triad: age of onset lower than 20 years, chronic progressive external ophthalmoplegia, and an atypical ...
Moulay O. Moustaine +5 more
doaj +1 more source
Expanding the MRPS34 Genotype–Phenotype Correlation: Two Novel Cases and a Cohort Review
JIMD Reports, Volume 67, Issue 4, July 2026.ABSTRACT MRPS34 encodes a mitoribosomal protein essential for mitochondrial translation. Biallelic pathogenic variants in MRPS34 cause Combined Oxidative Phosphorylation Deficiency 32 (COXPD32), a rare mitochondrial disorder within the Leigh syndrome spectrum (LSS), ranging from fatal in infancy to adult survival.
Alberte Aspaas Lundquist +4 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.We have identified 4 pathogenic/likely pathogenic changes and 2 variants of uncertain significance, 3 of which were novel. The identification of disease‐causing variants in the CRYAA, MYH9, RP2, and CLNC1 genes allowed us to establish an accurate genetic diagnosis of inherited cataract and to describe overlapping clinical phenotypes.
Kristiyana Vitanova +10 more
wiley +1 more source
Clinical OphthalmologyCynthia Matossian Matossian Eye Associates, Doylestown, PA, USACorrespondence: Cynthia Matossian, 3096 Comfort Road, New Hope, Doylestown, PA, 18938, USA, Tel +1 215-208-6944, Email cmatossianmd@icloud.comPurpose: To assess the presence and severity of ...
Matossian C
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Prenatal Alcohol Exposure and Dysmorphic Features in Adults at Midlife
Alcohol, Clinical and Experimental Research, Volume 50, Issue 7, July 2026.Dysmorphological facial features in individuals with prenatal alcohol exposure (PAE), including those with fetal alcohol spectrum disorder (FASD), persist into midlife. Controlling for age, sex, and race/ethnicity, PAE/FASD predicted measures of palpebral fissures, the philtrum, and the upper lip, among other features.
Susan A. Stoner +8 more
wiley +1 more source
Distal Agrin (AGRN) Congenital Myasthenic Syndrome With Mitochondrial Dysfunction
European Journal of Neurology, Volume 33, Issue 7, July 2026.ABSTRACT Background Agrin‐congenital myasthenic syndrome (AGRN‐CMS) is a rare, heterogeneous genetic disorder of the neuromuscular transmission that can present from infancy to adulthood. The clinical phenotype includes distal weakness mimicking distal myopathies.
Mariana Manoel Oku +4 more
wiley +1 more source
Medication Errors in Perioperative Nursing: A Scoping Review
Journal of Clinical Nursing, Volume 35, Issue 7, Page 2921-2933, July 2026.ABSTRACT Aim To map the current literature on the characteristics of nurse‐related medication errors in perioperative healthcare settings. Design A scoping review. Methods This scoping review used the five‐stage framework developed by Arksey and O'Malley (2005).
Chamila Wickramasinghe +2 more
wiley +1 more source
Revista Cubana de Oftalmología, 2008 La ptosis palpebral se define como la caída del párpado superior. OBJETIVO: Analizar los resultados obtenidos con su corrección quirúrgica y determinar la efectividad terapéutica con diferentes técnicas y vías de abordaje.
María Cáceres Toledo +2 more
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