Results 111 to 120 of about 57,995 (263)
JIMD Reports, Volume 66, Issue 6, November 2025.ABSTRACT Combined malonic and methylmalonic aciduria (CMAMMA) is an inborn error of metabolism caused by a deficiency in mitochondrial malonyl‐CoA synthetase, the enzyme responsible for activating malonic acid (MA) to malonyl‐CoA, a precursor of lipoic acid.
Vincenza Gragnaniello +9 more
wiley +1 more source
Chromogranin A: From Laboratory to Clinical Aspects of Patients with Neuroendocrine Tumors [PDF]
, 2018 Background. Neuroendocrine tumors (NETs) are characterized by having behavior and prognosis that depend upon tumor histology, primary site, staging, and proliferative index.
Baldelli, Roberto +8 more
core +1 more source
JPGN Reports, Volume 6, Issue 4, Page 394-399, November 2025.Abstract Baraitser‐Winter cerebrofrontofacial syndrome (BWCFF) is a rare congenital anomaly syndrome that can present with characteristics in multiple organ systems. These can include pachygyria, intellectual disability, seizures, congenital heart defects, renal malformations and gastrointestinal dysfunction.
Veronica Lee +4 more
wiley +1 more source
Hyperglycemia induced by pasireotide in patients with Cushing’s disease or acromegaly [PDF]
, 2016 PURPOSE: Cushing’s disease (CD) and acromegaly are characterized by excessive hormone secretion resulting in comorbidities such as impaired glucose metabolism, diabetes and hypertension.
Silverstein, Julie M
core +2 more sources
Expansion of the Phenotype of Lymphatic Anomalies Caused by Somatic Activating BRAF Variant
Pediatric Blood &Cancer, Volume 72, Issue 11, November 2025.ABSTRACT Background The somatic activating variant in BRAF (p.V600E) was recently described as a novel cause of macrocystic head and neck lymphatic malformations in three individuals. Other recent studies profiling the genetic causes of more complex lymphatic anomalies identified this same pathogenic BRAF variant.
Michael D. Fox +11 more
wiley +1 more source
Pediatric Blood &Cancer, Volume 72, Issue 11, November 2025.Abstract Background In neuroblastoma (NB), urinary catecholamine excretion and 123ImIBG avidity—depending on tumor enzymatic activity and norepinephrine transporter expression, respectively—are diagnostic standards. The prognostic impact of atypical NB, without urinary catecholamine excretion and/or 123ImIBG avidity, remains to be determined. We sought
Anna Borovkov +27 more
wiley +1 more source
Cancer Medicine, 2015 Patients with nonresectable metastatic neuroendocrine tumors (NETs) experience symptoms of hormone hypersecretion including diarrhea, flushing, and bronchoconstriction, which can interfere with quality of life [Anthony and Vinik (2011) Pancreas, 40:987].
Khalid Al-Efraij +2 more
semanticscholar +1 more source
Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?
Acta Ophthalmologica, Volume 103, Issue 7, Page e436-e455, November 2025.Abstract Gyrate atrophy of the choroid and retina (GACR; OMIM #258870) is a rare early‐onset autosomal recessive disorder, caused by bi‐allelic pathogenic variants in the gene coding for ornithine aminotransferase (OAT) resulting in hyperornithinaemia.
Mark J. N. Buijs +12 more
wiley +1 more source