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A girl, aged 1 year and 9 months, was found to have hypertriglyceridemia in the neonatal period, with unusual facies and signs of dark skin all over the body, disappearance of subcutaneous adipose, acanthosis nigricans of the neck, excessive and thick hair, empty cheeks, muscle hypertrophy of the
Organic and inorganic stable isotopes of lacustrine carbonate sediments are commonly used in reconstructions of ancient terrestrial ecosystems and environments. Microbial activity and local hydrological inputs can alter porewater chemistry (e.g., pH, alkalinity) and isotopic composition (e.g.,
Alterations of carbohydrate metabolism were studied in infants of insulin dependent diabetic mothers and in small for date babies with and without prenatal dystrophy. Glucose assimilation (Kt-value) and insulin secretion after i. v. glucose load were examinated on the 1st, 3rd, and 5th day of life.
Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive carbohydrate metabolism disorder caused by mutations in SLC2A2 encoding the glucose transporter 2 (GLUT2) protein. The clinical manifestations include hepatomegaly, conditional hypo/hyperglycemia, rickets, short stature and proximal renal
Leprechaunism is a congenital syndrome with characteristic habitus and facies, with fasting hypoglycemia and hyperinsulinism. In response to a glucose challenge there is prolonged severe hyperglycemia with an increased hyperinsulinemia. Our studies on such a patient showed a normal response of the
Marine carbonate rocks from the Mesoproterozoic Bangemall Group of northwestern Australia show little deviation (+/-1.3%) in whole-rock delta 13C(carb)-values about a mean of -0.5%. This narrow range persists despite close sampling (every 10-20 m) through long sections (up to 2500 m) that are
The late Ediacaran Dengying Formation (ca. 551.1-538.8 Ma) in South China is one of two successions where Ediacara-type macrofossils are preserved in carbonate facies along with skeletal fossils and bilaterian animal traces. Given the remarkable thickness of carbonate-bearing strata deposited in
The prevalent comorbidity between neuropsychiatric and gastrointestinal (GI) disorders is believed to be significantly influenced by gut microbiota (GM). GM may also play a substantial role in comorbidity between substance abuse (e.g. Alcohol Use Disorder, AUD) and depression. The Homozygous mutation of TBC1 domain-containing kinase (TBCK) is the cause of a very recently defined severe childhood disorder, which is characterized by severe hypotonia, global developmental delay, intellectual disability, epilepsy, characteristic facies and premature death. The link between TBCK