Child-onset hepatic glycogenosis and steatosis in PTEN-related disorder.
European Journal of Medical GeneticsBannayan-Riley-Ruvalcaba syndrome is a rare PTEN-related disorder characterized by macrocephaly, intellectual disability, autism, hamartomatous intestinal polyps, and pigmentation of the glans penis.
Boonyanurak Sihaklang +6 more
semanticscholar +1 more source
Acta Physiologica, Volume 241, Issue 12, December 2025.ABSTRACT Aim Blood lactate concentration ([La−]), usually measured in mmol/L, is one of the most frequently measured parameters during clinical exercise tests as well as during performance assessments of athletes. Therefore, the purpose of this review is to examine the methodological and biological factors that influence [La−] in order to improve the ...
José Antonio Benítez‐Muñoz +1 more
wiley +1 more source
Classic galactosemia: features of diagnosis and treatment
Zdorovʹe Rebenka, 2018 Background. Galactosemia type I, or classic galactosemia (CG), is the most severe form of hereditary disorders of carbohydrate metabolism, in particular, galactose. Galactosemia is not included in the program of massive neonatal screening in Ukraine. The
N.O. Pichkur +2 more
doaj +1 more source
Evidence for increased hepatic sympathetic nerve activity resulting in hyperglycemia in response to hemorrhage-induced reflex stimulation in anesthetized dogs [PDF]
, 1985 To investigate the role of the sympathoadrenal system in glucose mobilization by the liver during hemorrhage, catecholamine (CA) output from both adrenal glands was determined in anesthetized dogs.
Nobuharu Yamaguchi
core +1 more source
[Hepatic glycogenosis: a case report].
Revista de gastroenterologia del Peru : organo oficial de la Sociedad de Gastroenterologia del Peru, 2021 The glycogen storage diseases contain a range of diseases that are characterized by the abnormal storage or utilization of glycogen, the organs most affected being muscle and / or liver. Hepatomegaly may be a clinical sign that could guide to the diagnosis. We describe a 15-year-old patient with hepatomegaly, hypertransaminasemia and growth retardation.
Lida, Castillo +3 more
openaire +1 more source
Hipoglicemia, hepatomegalia y déficit pondoestatural: expresión clínica de glucogenosis Hypoglycemia, hepatomegaly and pondo-statural deficit: clinical expression of glycogenosis [PDF]
, 2023 Glycogenosis are a set of inborn errors of glycogen metabolism secondary to assignments that alter enzymes involved in its synthesis or degradation, which causes its deposit mainly in the liver and muscle.
Pino, Fátima +3 more
core +1 more source
Journal of Renal and Hepatic DisordersBackground: Glycogenic hepatopathy (GH) is a rare complication of uncontrolled type 1 diabetes mellitus (T1DM) in children and was originally described as Mauriac syndrome.
Monica Chandrasekar +1 more
semanticscholar +1 more source
gene mutation is highly associated with polysaccharide storage myopathy in Cob Normand draught horses [PDF]
, 2009 International audienceGlycogen storage diseases or glycogenoses are inherited diseases caused by abnormalities of enzymes that regulate the synthesis or degradation of glycogen.
X. Mata +19 more
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Mauriac Syndrome in Sudanese Children: An Old Syndrome Still Existing in Resource‐Limited Countries
Pediatric Diabetes, Volume 2025, Issue 1, 2025.Objective: Mauriac syndrome (MS) is a rare condition linked to inadequate glycemic control in type 1 diabetes mellitus (T1DM) and has also rarely been reported in patients with neonatal diabetes. MS manifests as growth failure, delayed puberty, cushingoid features, and hepatomegaly.
Mariam M. Ismail +4 more
wiley +1 more source
Insulin and glucagon response during hemorrhage induced hyperglycemia [PDF]
, 1982 Rapid hemorrhage to 50 mmHg (1 mmHg = 133.322 Pa) in the pentobarbital-anesthetized cat leads to severe hyperglycemia which declines only slightly by 90 min of hemorrhage.
Dallas J. Légaré +2 more
core +1 more source