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glycerol and Hypoadrenocorticism, Familial

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

Research Excerpts

ExcerptRelevanceReference
"Glycerol kinase plays a critical role in metabolism by converting glycerol to glycerol 3-phosphate in an ATP dependent reaction."5.38Glycerol 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."1.72Delayed 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."1.42Hypertriglyceridaemia 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."1.38Glycerol hypersensitivity in a Drosophila model for glycerol kinase deficiency is affected by mutations in eye pigmentation genes. ( Dipple, KM; Jackson, GR; Wightman, PJ, 2012)

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's3 (75.00)24.3611
2020's1 (25.00)2.80

Authors

AuthorsStudies
Tao, N1
Liu, X1
Chen, Y1
Sun, M1
Xu, F1
Su, Y1
Backes, JM1
Dayspring, TD1
Hoefner, DM1
Moriarty, PM1
Fodor, E1
Hellerud, C1
Hulting, J1
Karlson-Stiber, C1
Abrahamsson, L1
Nyström, T1
Andersson, DE1
Sjöholm, A1
Wightman, PJ1
Jackson, GR1
Dipple, KM1

Other Studies

4 other studies available for glycerol and Hypoadrenocorticism, Familial

ArticleYear
Delayed diagnosis of complex glycerol kinase deficiency in a Chinese male infant: a case report.
    BMC pediatrics, 2022, 09-01, Volume: 22, Issue:1

    Topics: Adrenal Insufficiency; Adrenocorticotropic Hormone; Child; China; Delayed Diagnosis; Glycerol; Glyce

2022
Hypertriglyceridaemia unresponsive to multiple treatments.
    BMJ case reports, 2015, Oct-14, Volume: 2015

    Topics: Carbohydrate Metabolism, Inborn Errors; Diagnosis, Differential; Diagnostic Errors; Follow-Up Studie

2015
Glycerol kinase deficiency in adult hypoglycemic acidemia.
    The New England journal of medicine, 2011, May-05, Volume: 364, Issue:18

    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.
    PloS one, 2012, Volume: 7, Issue:3

    Topics: Analysis of Variance; Animals; Animals, Genetically Modified; Carbohydrate Metabolism, Inborn Errors

2012