glycerol has been researched along with Hypoadrenocorticism, Familial in 4 studies
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Hypoadrenocorticism, Familial: Hereditary forms of Addison disease that may exhibit autosomal recessive or X-linked inheritance. They are characterized by severe neurological symptoms, APNEA; and death in infancy. OMIM: 240200
Excerpt | Relevance | Reference |
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"Glycerol kinase plays a critical role in metabolism by converting glycerol to glycerol 3-phosphate in an ATP dependent reaction." | 5.38 | Glycerol hypersensitivity in a Drosophila model for glycerol kinase deficiency is affected by mutations in eye pigmentation genes. ( Dipple, KM; Jackson, GR; Wightman, PJ, 2012) |
" We present a case of CGKD that was initially misdiagnosed and died during treatment in our hospital in terms of improving our understanding of the clinical features and diagnosis of this disease, as well as highlighting the need for more precise dosing of corticosteroid replacement therapy." | 1.72 | Delayed diagnosis of complex glycerol kinase deficiency in a Chinese male infant: a case report. ( Chen, Y; Liu, X; Su, Y; Sun, M; Tao, N; Xu, F, 2022) |
"A 'glycerol blank' was then requested from an advanced lipid laboratory, which reported a triglyceride value of 0." | 1.42 | Hypertriglyceridaemia unresponsive to multiple treatments. ( Backes, JM; Dayspring, TD; Hoefner, DM; Moriarty, PM, 2015) |
"Glycerol kinase plays a critical role in metabolism by converting glycerol to glycerol 3-phosphate in an ATP dependent reaction." | 1.38 | Glycerol hypersensitivity in a Drosophila model for glycerol kinase deficiency is affected by mutations in eye pigmentation genes. ( Dipple, KM; Jackson, GR; Wightman, PJ, 2012) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 0 (0.00) | 29.6817 |
2010's | 3 (75.00) | 24.3611 |
2020's | 1 (25.00) | 2.80 |
Authors | Studies |
---|---|
Tao, N | 1 |
Liu, X | 1 |
Chen, Y | 1 |
Sun, M | 1 |
Xu, F | 1 |
Su, Y | 1 |
Backes, JM | 1 |
Dayspring, TD | 1 |
Hoefner, DM | 1 |
Moriarty, PM | 1 |
Fodor, E | 1 |
Hellerud, C | 1 |
Hulting, J | 1 |
Karlson-Stiber, C | 1 |
Abrahamsson, L | 1 |
Nyström, T | 1 |
Andersson, DE | 1 |
Sjöholm, A | 1 |
Wightman, PJ | 1 |
Jackson, GR | 1 |
Dipple, KM | 1 |
4 other studies available for glycerol and Hypoadrenocorticism, Familial
Article | Year |
---|---|
Delayed diagnosis of complex glycerol kinase deficiency in a Chinese male infant: a case report.
Topics: Adrenal Insufficiency; Adrenocorticotropic Hormone; Child; China; Delayed Diagnosis; Glycerol; Glyce | 2022 |
Hypertriglyceridaemia unresponsive to multiple treatments.
Topics: Carbohydrate Metabolism, Inborn Errors; Diagnosis, Differential; Diagnostic Errors; Follow-Up Studie | 2015 |
Glycerol kinase deficiency in adult hypoglycemic acidemia.
Topics: Acidosis; Adult; Carbohydrate Metabolism, Inborn Errors; Diagnosis, Differential; Ethylene Glycol; G | 2011 |
Glycerol hypersensitivity in a Drosophila model for glycerol kinase deficiency is affected by mutations in eye pigmentation genes.
Topics: Analysis of Variance; Animals; Animals, Genetically Modified; Carbohydrate Metabolism, Inborn Errors | 2012 |