Page last updated: 2024-10-18
dihydroxyphenylalanine and Cutis Elastica
dihydroxyphenylalanine has been researched along with Cutis Elastica in 1 studies
Dihydroxyphenylalanine: A beta-hydroxylated derivative of phenylalanine. The D-form of dihydroxyphenylalanine has less physiologic activity than the L-form and is commonly used experimentally to determine whether the pharmacological effects of LEVODOPA are stereospecific.
dopa : A hydroxyphenylalanine carrying hydroxy substituents at positions 3 and 4 of the benzene ring.
Research Excerpts
| Excerpt | Relevance | Reference |
|---|
| "We have found mutations in the Menkes disease gene (MNK) which impair, but do not abolish, correct mRNA splicing in patients with less severe clinical phenotypes." | 1.29 | Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. ( Gahl, WA; Gallo, LK; Goldstein, DS; Holmes, CS; Kaler, SG; Mark, Y; Percy, AK; Proud, VK; Segal, NA, 1994) |
Research
Studies (1)
| Timeframe | Studies, this research(%) | All Research% |
|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 1 (100.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
Authors
| Authors | Studies |
|---|
| Kaler, SG | 1 |
| Gallo, LK | 1 |
| Proud, VK | 1 |
| Percy, AK | 1 |
| Mark, Y | 1 |
| Segal, NA | 1 |
| Goldstein, DS | 1 |
| Holmes, CS | 1 |
| Gahl, WA | 1 |
Clinical Trials (1)
Trial Overview
| Trial | Phase | Enrollment | Study Type | Start Date | Status |
|---|
| Early Copper Histidine Therapy in Menkes Disease[NCT00001262] | Phase 1/Phase 2 | 60 participants (Actual) | Interventional | 1990-06-30 | Completed |
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] |
Trial Outcomes
Fine Motor Adaptive Development at 36 Mos of Age or at Death (Mos)
This was measured based on the Denver Developmental Screening Test (DDST) I or II for age-appropriate fine motor development in apparently normal healthy subjects at specific ages (in months). The DDST employs a grid to assess expected developmental milestones in relation to chronologic age. (NCT00001262)
Timeframe: 36 months or death
| Intervention | Other - Months (Mean) |
|---|
| Early | 16.200 |
| Late | 2.409 |
| Mild | 17.667 |
Gross Motor Development at 36 Mos of Age or at Death (Mos)
This was measured based on the Denver Developmental Screening Test (DDST) I or II for age-appropriate gross motor development in apparently normal healthy subjects at specific ages (in months). The DDST employs a grid to assess expected developmental milestones in relation to chronologic age. (NCT00001262)
Timeframe: 36 months or death
| Intervention | Other - months (Mean) |
|---|
| Early | 13.743 |
| Late | 2.455 |
| Mild | 15.667 |
Language Development at 36 Mos of Age or at Death (Mos)
This was measured based on the Denver Developmental Screening Test (DDST) I or II for age-appropriate language development in apparently normal healthy subjects at specific ages (in months). The DDST employs a grid to assess expected developmental milestones in relation to chronologic age. (NCT00001262)
Timeframe: 36 months or death
| Intervention | Other - Months (Mean) |
|---|
| Early | 15.800 |
| Late | 3.227 |
| Mild | 21.000 |
Personal-Social Development at 36 Mos of Age or at Death (Mos)
This was measured based on the Denver Developmental Screening Test (DDST) I or II for age-appropriate personal-social development in apparently normal healthy subjects at specific ages (in months). The DDST employs a grid to assess expected developmental milestones in relation to chronologic age. (NCT00001262)
Timeframe: 36 months or death
| Intervention | Other - Months (Mean) |
|---|
| Early | 17.657 |
| Late | 3.364 |
| Mild | 17.667 |
Somatic Growth Percentiles at 3 Years of Age (or at Age of Death) - Head Circumference Percentile
(NCT00001262)
Timeframe: 36 months or death
| Intervention | Other - Percentile (Mean) |
|---|
| Early | 33.286 |
| Late | 11.136 |
| Mild | 18.333 |
Somatic Growth Percentiles at 3 Years of Age (or at Age of Death) - Length Percentile
(NCT00001262)
Timeframe: 36 months or death
| Intervention | Other - Percentile (Mean) |
|---|
| Early | 8.286 |
| Late | 15.455 |
| Mild | 28.333 |
Somatic Growth Percentiles at 3 Years of Age (or at Age of Death) - Weight Percentile
(NCT00001262)
Timeframe: 36 months or death
| Intervention | Other - Percentile (Mean) |
|---|
| Early | 12.086 |
| Late | 11.273 |
| Mild | 5.000 |
Other Studies
1 other study available for dihydroxyphenylalanine and Cutis Elastica