glycerol has been researched along with Adrenal Insufficiency in 13 studies
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Adrenal Insufficiency: Conditions in which the production of adrenal CORTICOSTEROIDS falls below the requirement of the body. Adrenal insufficiency can be caused by defects in the ADRENAL GLANDS, the PITUITARY GLAND, or the HYPOTHALAMUS.
Excerpt | Relevance | Reference |
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"We describe an infant with adrenal insufficiency who was subsequently diagnosed with Duchenne muscular dystrophy (DMD) and hyperglycerolemia due to glycerol kinase deficiency." | 7.69 | Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome. ( Clarke, LA; Cole, DE; Riddell, DC; Salisbury, S; Samson, KA; Seltzer, WK, 1994) |
"In studies of the X chromosomes of two unrelated boys with adrenal hypoplasia, glycerol kinase deficiency, Duchenne muscular dystrophy, and mental retardation, conventional G banding did not reveal any numerical or structural abnormality, but direct DNA analysis with the X short-arm probes 754, C7, and OCT revealed a deletion in 1 of these patients." | 7.67 | Deletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy. ( Davies, KE; Dillon, MJ; Dunger, DB; Lake, B; Pearson, P; Pembrey, M; Whitfield, A; Williams, D, 1986) |
"We report an interstitial deletion in the short arm of the X chromosome in a 6-year-old boy with Duchenne muscular dystrophy, glycerol kinase deficiency, adrenal insufficiency, intermittent hypoglycemia, spasticity, psychomotor retardation, and growth delay." | 7.67 | Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion. ( Bartley, JA; Davenport, S; Goldstein, D; Patil, S; Pickens, J, 1986) |
"We describe an infant with adrenal insufficiency who was subsequently diagnosed with Duchenne muscular dystrophy (DMD) and hyperglycerolemia due to glycerol kinase deficiency." | 3.69 | Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome. ( Clarke, LA; Cole, DE; Riddell, DC; Salisbury, S; Samson, KA; Seltzer, WK, 1994) |
"Infantile glycerol kinase deficiency (GKD) is an X-linked genetic disease characterized clinically by adrenal insufficiency and muscular dystrophy." | 3.67 | Infantile glycerol kinase deficiency--a condition requiring prompt identification. Clinical, biochemical, and morphological findings in two cases. ( Beckenkamp, G; Kohlschütter, A; Kruse, K; McCabe, ER; Rohkamm, R; Schäfer, HJ; Schlamp, D; Willig, HP, 1987) |
"In studies of the X chromosomes of two unrelated boys with adrenal hypoplasia, glycerol kinase deficiency, Duchenne muscular dystrophy, and mental retardation, conventional G banding did not reveal any numerical or structural abnormality, but direct DNA analysis with the X short-arm probes 754, C7, and OCT revealed a deletion in 1 of these patients." | 3.67 | Deletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy. ( Davies, KE; Dillon, MJ; Dunger, DB; Lake, B; Pearson, P; Pembrey, M; Whitfield, A; Williams, D, 1986) |
"We report an interstitial deletion in the short arm of the X chromosome in a 6-year-old boy with Duchenne muscular dystrophy, glycerol kinase deficiency, adrenal insufficiency, intermittent hypoglycemia, spasticity, psychomotor retardation, and growth delay." | 3.67 | Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion. ( Bartley, JA; Davenport, S; Goldstein, D; Patil, S; Pickens, J, 1986) |
" 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) |
"Another child has intermittent coma, a normal IQ, and no evidence of adrenal insufficiency." | 1.27 | Human glycerol kinase deficiency: an inborn error of compartmental metabolism. ( McCabe, ER, 1983) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 7 (53.85) | 18.7374 |
1990's | 1 (7.69) | 18.2507 |
2000's | 3 (23.08) | 29.6817 |
2010's | 1 (7.69) | 24.3611 |
2020's | 1 (7.69) | 2.80 |
Authors | Studies |
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Tao, N | 1 |
Liu, X | 1 |
Chen, Y | 1 |
Sun, M | 1 |
Xu, F | 1 |
Su, Y | 1 |
Almontashiri, NAM | 1 |
Berry, GT | 1 |
Majzoub, J | 1 |
Peake, RWA | 1 |
Hellerud, C | 1 |
Adamowicz, M | 1 |
Jurkiewicz, D | 1 |
Taybert, J | 1 |
Kubalska, J | 1 |
Ciara, E | 1 |
Popowska, E | 1 |
Ellis, JR | 1 |
Lindstedt, S | 1 |
Pronicka, E | 1 |
Li, XZ | 1 |
Liu, L | 1 |
Mei, HF | 1 |
Yoshimoto, M | 1 |
Takayanagi, T | 1 |
Nagayoshi, T | 1 |
Baba, T | 1 |
Tsuji, Y | 1 |
Bartley, JA | 2 |
Miller, DK | 1 |
Hayford, JT | 1 |
McCabe, ER | 3 |
Cole, DE | 1 |
Clarke, LA | 1 |
Riddell, DC | 1 |
Samson, KA | 1 |
Seltzer, WK | 1 |
Salisbury, S | 1 |
Sjarif, DR | 1 |
Ploos van Amstel, JK | 1 |
Duran, M | 1 |
Beemer, FA | 1 |
Poll-The, BT | 1 |
Kohlschütter, A | 1 |
Willig, HP | 1 |
Schlamp, D | 1 |
Kruse, K | 1 |
Schäfer, HJ | 1 |
Beckenkamp, G | 1 |
Rohkamm, R | 1 |
Søvik, O | 1 |
Jellum, E | 1 |
Madsen, B | 1 |
Dunger, DB | 1 |
Davies, KE | 1 |
Pembrey, M | 1 |
Lake, B | 1 |
Pearson, P | 1 |
Williams, D | 1 |
Whitfield, A | 1 |
Dillon, MJ | 1 |
Patil, S | 1 |
Davenport, S | 1 |
Goldstein, D | 1 |
Pickens, J | 1 |
1 review available for glycerol and Adrenal Insufficiency
Article | Year |
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Isolated and contiguous glycerol kinase gene disorders: a review.
Topics: Adrenal Insufficiency; Amino Acid Sequence; Carbohydrate Metabolism, Inborn Errors; Genetic Linkage; | 2000 |
12 other studies available for glycerol and Adrenal Insufficiency
Article | Year |
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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 |
Abnormal Glycerol Metabolism in a Child with Global Developmental Delay, Adrenal Insufficiency, and Intellectual Disability.
Topics: Adrenal Insufficiency; Child, Preschool; DAX-1 Orphan Nuclear Receptor; Developmental Disabilities; | 2018 |
Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis.
Topics: Adrenal Insufficiency; Chromosomes, Human, X; DAX-1 Orphan Nuclear Receptor; DNA Mutational Analysis | 2003 |
[Complex glycerol kinase deficiency in three children].
Topics: Adrenal Insufficiency; Diagnosis, Differential; Genetic Diseases, X-Linked; Glycerol; Glycerol Kinas | 2007 |
[Case of adrenal insufficiency, nonspecific myopathy, psychomotor retardation and glyceroluria--glycerol kinase deficiency?].
Topics: Adrenal Insufficiency; Child, Preschool; Glycerol; Glycerol Kinase; Humans; Male; Muscular Diseases; | 1984 |
Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia.
Topics: Adrenal Glands; Adrenal Insufficiency; Child, Preschool; Female; Genetic Linkage; Glycerol; Glycerol | 1982 |
Human glycerol kinase deficiency: an inborn error of compartmental metabolism.
Topics: Adrenal Insufficiency; Adult; Aged; Child; Child, Preschool; Coma; Female; Fibroblasts; Glycerol; Gl | 1983 |
Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome.
Topics: Adrenal Insufficiency; Blotting, Southern; Chromosome Mapping; Gene Deletion; Glycerol; Glycerol Kin | 1994 |
Infantile glycerol kinase deficiency--a condition requiring prompt identification. Clinical, biochemical, and morphological findings in two cases.
Topics: Adrenal Insufficiency; Glycerol; Glycerol Kinase; Humans; Infant, Newborn; Intellectual Disability; | 1987 |
Glyceroluria with adrenocortical insufficiency, developmental delay and early death.
Topics: Adrenal Insufficiency; Glycerol; Glycerol Kinase; Humans; Infant, Newborn; Male; Phosphotransferases | 1988 |
Deletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy.
Topics: Adrenal Insufficiency; Child; Child, Preschool; Chromosome Banding; Chromosome Deletion; DNA; Glycer | 1986 |
Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion.
Topics: Adrenal Insufficiency; Child; Chromosome Banding; Chromosome Deletion; Chromosome Mapping; Female; G | 1986 |