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A glycogen storage disease(GSD, also glycogenosisand dextrinosis) is a metabolic disordercaused by a deficiency of an enzymeor transport proteinaffecting glycogen synthesis, glycogen breakdown, or glucose breakdown, typically in musclesand/or livercells. [1] GSD has two classes of cause: genetic and environmental.
GSD III is AR. In regards to genetics glycogen storage disease type III is inherited in an autosomal recessive pattern (which means both parents need be a carrier), and occurs in about 1 of every 100,000 live births.
Glycogen storage disease type I (GSD I) is an inherited disease that prevents the liver from properly breaking down stored glycogen, which is necessary to maintain adequate blood sugar levels. GSD I is divided into two main types, GSD Ia and GSD Ib, which differ in cause, presentation, and treatment. There are also possibly rarer subtypes, the ...
Fern test. The fern test is a medical laboratory test used in obstetrics and gynecology. The name refers to the detection of a characteristic " fern like" pattern of vaginal secretions when a specimen is allowed to dry on a glass slide and is viewed under a low-power microscope. The fern test is most commonly used to provide evidence of the ...
The female body goes through a variety of physical changes during pregnancy, including alterations to the brain. ... this process happens early in development, again during puberty, and pregnancy ...
Conceptual workflow of somatic mutational signatures identification. Diverse mutagenesis processes shape the somatic landscape of tumors. Deciphering the underlying patterns of cancer mutations allows to uncover relationships between these recurrent patterns of mutations and infer possible causal mutational processes.
For the first time, researchers have mapped out the very real physical changes of “pregnancy brain,” the changes that a mother’s brain undergoes while carrying a baby. There’s “so much ...
The fetal origins hypothesis (differentiated from the Developmental Origins of Health and Disease hypothesis, which emphasizes environmental conditions both before and immediately after birth) proposes that the period of gestation has significant impacts on the developmental health and wellbeing outcomes for an individual ranging from infancy ...