Results 31 to 40 of about 615,949 (181)

Placenta Pathologies in Two Patients With Glycogen Storage Disease Type Ia and Preeclampsia. [PDF]

open access: yesJIMD Rep
ABSTRACT Little is known about pregnancies and placental changes in women with glycogen storage disease type Ia (GSD Ia). We report on two primipara with GSD Ia who both developed preeclampsia and whose newborns were small for gestational age. Both placentas showed sonomorphological and macroscopical abnormalities.
Laufs V   +7 more
europepmc   +2 more sources

HEPATIC GLYCOGENOSIS: AN UNDER-RECOGNIZED COMPLICATION OF POORLY CONTROLLED DIABETES MELLITUS TYPE 1(THREE CLINICAL CASES)

open access: yesInternational Journal of Advanced Research, 2022
Hepaticglycogenosis is an inherited abnormality characterized by excessive glycogen accumulation in hepatocytes. It is a hepatic complication of poorly controlled type 1 diabetes mellitus.
A. Idrissi   +6 more
semanticscholar   +1 more source

GLUCOGENOSIS AS A CAUSE OF INTRAHEPATIC CHOLESTASIS

open access: yesAnnals of Hepatology, 2022
Introduction and Objectives: Hepatic glycogen storage pathologies are very rare diseases among inborn errors of metabolism caused by the alteration of the enzymes involved in the metabolism of glycogen.
K.Y. Santoyo López   +1 more
doaj   +1 more source

Hepatic Glycogenosis: A Modern Reality in Children with Type 1 Diabetes

open access: yesScholars Journal of Medical Case Reports, 2022
Background: Mauriac syndrome (MS) is a rare complication of type 1 diabetes (T1D). It is related to low insulin concentrations and is less common since longer-acting insulins became available. It is characterized by hepatomegaly, growth and puberty delay,
Chérihane Dassouli   +5 more
semanticscholar   +1 more source

Further Delineation of the Spectrum of XMEN Disease in Six Chinese Pediatric Patients

open access: yesFrontiers in Genetics, 2022
X-linked MAGT1 deficiency with increased susceptibility to EBV-infection and N-linked glycosylation defect (XMEN) disease is a primary immunodeficiency caused by loss-of-function variants in the MAGT1 gene.
Xiaomin Peng   +10 more
doaj   +1 more source

A Case of Probable Hepatic Glycogenosis Accompanying Poorly Controlled Type 1 Diabetes Mellitus

open access: yesEndocrinology Research and Practice, 2012
The major causes of hepatomegaly and elevated transaminases in patients with diabetes mellitus are glycogenosis or fatty liver and non-alcoholic steatohepatitis (NASH).
Elif Kılıç Kan   +5 more
doaj   +1 more source

Subpleural pulmonary cysts in children: Associations beyond Trisomy 21

open access: yesPediatric Pulmonology, Volume 58, Issue 12, Page 3498-3506, December 2023., 2023
Abstract Background Small air‐filled peripheral subpleural cysts are a well‐described feature of pulmonary anatomy at computerized tomographic (CT) scan in children with Trisomy 21, yet only anecdotally described in association with other pathologies. The significance of these cysts is unknown.
Anuradha Singh   +5 more
wiley   +1 more source

Microbial biomarkers differentiating patients with hepatic glycogenosis diseases and healthy controls. [PDF]

open access: yes, 2019
Microbial biomarkers differentiating patients with hepatic glycogenosis diseases and healthy controls.
Eric W. Triplett (94318)   +7 more
core   +1 more source

The Liver and Glycogen: In Sickness and in Health [PDF]

open access: yes, 2023
The liver is a major store of glycogen and is essential in maintaining systemic glucose homeostasis. In healthy individuals, glycogen synthesis and breakdown in the liver are tightly regulated.
Gwyneth S. T. Soon, Michael Torbenson
core   +1 more source

Home - About - Disclaimer - Privacy