carnitine has been researched along with Carboxylase Deficiency, Multiple, Neonatal Form in 4 studies
| Excerpt | Relevance | Reference |
|---|---|---|
| "She had no phenotypic feature of holocarboxylase synthetase deficiency, most importantly no episodes ever of acute metabolic acidosis." | 1.35 | Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency. ( Barshop, BA; Gangoiti, J; Nyhan, WL; Willis, M, 2009) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 4 (100.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Yokoi, K | 1 |
| Ito, T | 1 |
| Maeda, Y | 1 |
| Nakajima, Y | 1 |
| Kurono, Y | 1 |
| Sugiyama, N | 1 |
| Togari, H | 1 |
| Nyhan, WL | 1 |
| Willis, M | 1 |
| Barshop, BA | 1 |
| Gangoiti, J | 1 |
| Joensen, F | 2 |
| Steuerwald, EU | 1 |
| Rasmussen, NH | 1 |
| Lund, AM | 1 |
| Hougaard, DM | 1 |
| Jensen, LK | 1 |
| Christensen, E | 1 |
| Christensen, M | 1 |
| Nørgaard-Petersen, B | 1 |
| Schwartz, M | 1 |
| Skovby, F | 1 |
1 review available for carnitine and Carboxylase Deficiency, Multiple, Neonatal Form
| Article | Year |
|---|---|
[Three congenital metabolic diseases in the Faeroe Islands. Incidence, clinical and molecular genetic characteristics of Faeroese children with glycogen storage disease type IIIA, carnitine transporter deficiency and holocarboxylase synthetase deficiency]
Topics: Adult; Carnitine; Child; Child, Preschool; Denmark; Female; Glycogen Storage Disease Type III; Holoc | 2006 |
3 other studies available for carnitine and Carboxylase Deficiency, Multiple, Neonatal Form
| Article | Year |
|---|---|
A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy.
Topics: Acetylcarnitine; Biotin; Carnitine; Female; Holocarboxylase Synthetase Deficiency; Humans; Infant, N | 2009 |
Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency.
Topics: Adult; Biotin; Carnitine; False Positive Reactions; Female; Holocarboxylase Synthetase Deficiency; H | 2009 |
Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands.
Topics: Carnitine; Feasibility Studies; Female; Follow-Up Studies; Gene Frequency; Genetic Carrier Screening | 2007 |