facies/carbohydrate

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[Unusual facies and recurrent high triglycerides for more than one year in a girl].

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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

Carbonate facies-specific stable isotope data record climate, hydrology, and microbial communities in Great Salt Lake, UT.

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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.,

[Carbohydrate metabolism of infants with prenatal dystrophy and infants of diabetic mothers. Glucosetolerance and insulinsecretion in the first week of life (author's transl)].

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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.

Genetic testing of two Pakistani patients affected with rare autosomal recessive Fanconi-Bickel syndrome and identification of a novel SLC2A2 splice site variant.

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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

Hepatic ultrastructure in leprechaunism. Hepatic ultrastructural evidence suggesting a syndrome with defective hepatic glucose release.

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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

Stable isotopic compositions of carbonates from the Mesoproterozoic Bangemall Group, northwestern Australia.

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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

Sedimentology and chemostratigraphy of the terminal Ediacaran Dengying Formation at the Gaojiashan section, South China.

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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

Moxidectin Effects on Gut Microbiota of Wistar-Kyoto Rats: Relevance to Depressive-Like Behavior.

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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 TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease - a new type of neuronal ceroid lipofuscinosis (CLN15)?

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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

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