pipecolic acid has been researched along with Adult Refsum Disease in 8 studies
pipecolic acid: RN given refers to cpd without isomeric designation
pipecolic acid : A piperidinemonocarboxylic acid in which the carboxy group is located at position C-2.
pipecolate : A piperidinecarboxylate that is the conjugate base of pipecolic acid.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease patients can be divided into at least five distinct groups, according to the nature of their plasma changes and their fibroblast phytanic acid oxidase activities." | 7.67 | Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: plasma changes and skin fibroblast phytanic acid oxidase. ( Danks, DM; Fellenberg, AJ; Poulos, A; Sharp, P, 1985) |
| "Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease patients can be divided into at least five distinct groups, according to the nature of their plasma changes and their fibroblast phytanic acid oxidase activities." | 3.67 | Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: plasma changes and skin fibroblast phytanic acid oxidase. ( Danks, DM; Fellenberg, AJ; Poulos, A; Sharp, P, 1985) |
| "Disorders of peroxisomal biogenesis include the Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum syndrome, and hyperpipecolic acidemia." | 3.67 | Genetic and phenotypic heterogeneity in disorders of peroxisome biogenesis--a complementation study involving cell lines from 19 patients. ( Hoefler, G; Hoefler, S; Moser, A; Moser, H; Paltauf, F; Paschke, E; Roscher, AA, 1989) |
| "Adult Refsum disease (ARD) is a rare autosomal recessive neurologic disorder associated with the accumulation in blood and tissues of phytanic acid, a natural compound of exogenous origin whose catabolism is impaired in patients." | 1.29 | Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family. ( Gyapay, G; Koenig, M; Mandel, JL; Nadal, N; Reutenauer, L; Rolland, MO; Tranchant, C; Warter, JM, 1995) |
| "Infantile Refsum's disease was diagnosed in three male patients, presenting with facial dysmorphia, retinitis pigmentosa, neurosensory hearing loss, hepatomegaly, osteopenia and delayed growth and psychomotor development." | 1.27 | Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction. ( Moser, HW; Ogier, H; Poll-The, BT; Poulos, A; Saudubray, JM; Schrakamp, G; Schutgens, RB; Trijbels, JM; van den Bosch, H; Wanders, RJ, 1986) |
| "Two patients with infantile phytanic acid storage disease (infantile Refsum disease), one of whom showed the presence of morphologically normal peroxisomes in a liver biopsy, were treated with a low phytanic acid diet for more than 2 years and the effects of treatment on certain clinical, biochemical and ultrastructural parameters were examined." | 1.27 | Treatment of infantile phytanic acid storage disease: clinical, biochemical and ultrastructural findings in two children treated for 2 years. ( Carter, R; Jaunzems, A; Manson, J; Poulos, A; Robertson, EF; Sharp, P; Wise, G, 1988) |
| "The infantile and classical forms of Refsum's disease are generally considered to belong to the newly recognized group of peroxisomal disorders." | 1.27 | Peroxisomal functions in classical Refsum's disease: comparison with the infantile form of Refsum's disease. ( Heymans, HS; Poll-Thé, BT; Saudubray, JM; Schrakamp, G; Schutgens, RB; Tager, JM; van den Bosch, H; Wanders, RJ, 1988) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 7 (87.50) | 18.7374 |
| 1990's | 1 (12.50) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Nadal, N | 1 |
| Rolland, MO | 1 |
| Tranchant, C | 1 |
| Reutenauer, L | 1 |
| Gyapay, G | 1 |
| Warter, JM | 1 |
| Mandel, JL | 1 |
| Koenig, M | 1 |
| Poulos, A | 3 |
| Sharp, P | 2 |
| Fellenberg, AJ | 1 |
| Danks, DM | 1 |
| Moser, HW | 2 |
| Poll-The, BT | 2 |
| Saudubray, JM | 2 |
| Ogier, H | 1 |
| Schutgens, RB | 2 |
| Wanders, RJ | 2 |
| Schrakamp, G | 2 |
| van den Bosch, H | 2 |
| Trijbels, JM | 1 |
| Monnens, L | 1 |
| Heymans, H | 1 |
| Robertson, EF | 1 |
| Manson, J | 1 |
| Wise, G | 1 |
| Jaunzems, A | 1 |
| Carter, R | 1 |
| Heymans, HS | 1 |
| Tager, JM | 1 |
| Roscher, AA | 1 |
| Hoefler, S | 1 |
| Hoefler, G | 1 |
| Paschke, E | 1 |
| Paltauf, F | 1 |
| Moser, A | 1 |
| Moser, H | 1 |
1 review available for pipecolic acid and Adult Refsum Disease
| Article | Year |
|---|---|
Peroxisomal disorders: clinical characterization.
Topics: Adrenoleukodystrophy; Brain Diseases; Chondrodysplasia Punctata; Enzymes; Humans; Hyperoxaluria, Pri | 1987 |
7 other studies available for pipecolic acid and Adult Refsum Disease
| Article | Year |
|---|---|
Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family.
Topics: Cells, Cultured; Child; Chromosome Mapping; Chromosomes, Human, Pair 10; DNA, Satellite; Female; Fib | 1995 |
Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: plasma changes and skin fibroblast phytanic acid oxidase.
Topics: Adrenoleukodystrophy; Brain Diseases; Cells, Cultured; Child, Preschool; Chromatography, Gas; Diffus | 1985 |
Peroxisomal disorders.
Topics: Adrenoleukodystrophy; Animals; Brain Diseases; Child; Child, Preschool; Chondrodysplasia Punctata; H | 1986 |
Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction.
Topics: Acyltransferases; Bile Acids and Salts; Blood Platelets; Child; Fatty Acids; Fibroblasts; Humans; Ma | 1986 |
Treatment of infantile phytanic acid storage disease: clinical, biochemical and ultrastructural findings in two children treated for 2 years.
Topics: Eicosanoic Acids; Fatty Acids; Humans; Infant; Liver; Lysosomes; Male; Microbodies; Phytanic Acid; P | 1988 |
Peroxisomal functions in classical Refsum's disease: comparison with the infantile form of Refsum's disease.
Topics: Acyltransferases; Catalase; Cholic Acids; Fatty Acids; Fibroblasts; Humans; Microbodies; Phytanic Ac | 1988 |
Genetic and phenotypic heterogeneity in disorders of peroxisome biogenesis--a complementation study involving cell lines from 19 patients.
Topics: Adrenoleukodystrophy; Cell Line; Child; Child, Preschool; Diffuse Cerebral Sclerosis of Schilder; Fe | 1989 |