glycerol has been researched along with Abnormalities, Sex Chromosome in 3 studies
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| Excerpt | Relevance | Reference |
|---|---|---|
| "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) |
| "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) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 2 (66.67) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (33.33) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Illsinger, S | 1 |
| Marquardt, I | 1 |
| Lücke, T | 1 |
| Hellerud, C | 1 |
| Korenke, C | 1 |
| Das, AM | 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 |
| Bartley, JA | 1 |
| Patil, S | 1 |
| Davenport, S | 1 |
| Goldstein, D | 1 |
| Pickens, J | 1 |
3 other studies available for glycerol and Abnormalities, Sex Chromosome
| Article | Year |
|---|---|
Two cases of isolated glycerol kinase deficiency with heterogeneous neurological symptoms.
Topics: Child, Preschool; Chromosomes, Human, X; Diet, Fat-Restricted; Glycerol; Glycerol Kinase; Humans; Hy | 2007 |
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 |