Results 121 to 130 of about 49,728 (243)
Here we report a de novo heterozygous MED13 variant (c.2503C>T, p.Pro835Ser) in an infant presenting with infantile spasms, hypertrophic cardiomyopathy and hepatomegaly.
Toshiki Takenouchi +10 more
core +1 more source
Clinical Case Reports, Volume 14, Issue 7, July 2026.ABSTRACT Hepatitis B induced hepatocellular carcinoma (HCC) is an important cause of morbidity and mortality in sub‐Saharan Africa and particularly in Zambia presenting at a younger age compared to other regions globally and with poorer prognosis.
E. Syabbalo +8 more
wiley +1 more source
The Effects of Methionine on Paracetamol Induce Live Injury –Hepatomegaly- (Animal Study)
, 2014 This study which was done for a total (45) mice, over a time of 30 days, reflects that paracetamol overdoses causing hepatic enlargement with high significant results (P<0.0001), although combined together with Methionine and by the same intra-gastric
Al- Musawi, Jawad F. H.
core
Interplay Between Infectious Diseases and the Endocrine System: An Overview and Clinical Insights
Endocrinology, Diabetes &Metabolism, Volume 9, Issue 4, July 2026.Infectious diseases can disrupt endocrine homeostasis through direct cytopathic injury, autoimmune dysregulation, or pathogen‐derived hormone‐like effects. Viruses and bacteria are the most frequent agents, whereas fungi and parasites contribute less commonly, even remaining clinically relevant, especially in the immunocompromised population.
Francesco Capoccia +4 more
wiley +1 more source
Gingival fibromatosis, short stature, border-line IQ, facial dysmorphism and hepatomegaly
, 2005 Gingival fibromatosis, short stature, border-line IQ. facial dysmorphism and hepatomegaly. Gingival fibromatosis is a rare and benign disorder. The enlarged gingivae are firm and may Interfere with speech, closure of the lips, and mastication.
Percin, EF +4 more
core
Endocrinology, Diabetes &Metabolism, Volume 9, Issue 4, July 2026.This review shows that CGM can shift GSD management from reactive surveillance to proactive metabolic regulation, significantly improving Time in Range. While effective in detecting occult hypoglycemia, its clinical utility is currently limited by low‐range sensor inaccuracies and alarm fatigue, necessitating individualized patient management. ABSTRACT
Reihaneh Mohsenipour +5 more
wiley +1 more source
Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.ABSTRACT Arginase 1 deficiency (ARG1‐D) is an ultra‐rare urea cycle disorder characterized by progressive spastic paraplegia, developmental delay, epilepsy, and episodic hyperammonemia. Evidence on prevalence and clinical presentation is scarce. Therefore, epidemiology and the phenotypical spectrum were assessed in Germany, Austria, and Switzerland ...
Svenja Scharre +19 more
wiley +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
JIMD Reports, Volume 67, Issue 4, July 2026.ABSTRACT Mitochondrial carbonic anhydrase VA (CA‐VA) deficiency is a rare inherited metabolic disorder caused by biallelic variants of the CA5A gene. It presents with hyperammonemia, lactic acidosis, and ketonuria, with or without hypoglycemia. We report the long‐term follow‐up of the first two reported cases of CA‐VA deficiency: a 16‐year‐old female ...
Shaymaa Shurrab +5 more
wiley +1 more source
Revista Médica Electrónica, 2011 El hemangioma hepático es el tumor benigno más frecuente del hígado, y su diagnóstico casi siempre es incidental por ecosonograma abdominal. Generalmente son asintomáticos excepto si son gigantes, que los síntomas serían por el efecto de masa.
Roxana Ávalos García +3 more
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