pteridines has been researched along with Microcephaly in 4 studies
Microcephaly: A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)
| Excerpt | Relevance | Reference |
|---|---|---|
| "Molybdenum cofactor deficiency was diagnosed in a 3-month-old girl who presented with microcephaly, developmental delay, severe irritability, and lactic acidosis." | 3.68 | Short-term response to dietary therapy in molybdenum cofactor deficiency. ( Boles, RG; Horwich, AL; Kratz, LE; Ment, LR; Meyn, MS; Rinaldo, P, 1993) |
| "At 10 months of age, he now has microcephaly and developmental delay, and his seizures are controlled with phenobarbital, clonozepam, and vigabatrin therapy." | 1.36 | Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency. ( Cağlayan, AO; Dundar, M; Engelen, J; Ghesquiere, S; Gümüş, H; Ichida, K; Kondolot, M; Kumandaş, S; Per, H; Poyrazoğlu, G, 2010) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 1 (25.00) | 18.7374 |
| 1990's | 1 (25.00) | 18.2507 |
| 2000's | 1 (25.00) | 29.6817 |
| 2010's | 1 (25.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Gümüş, H | 1 |
| Ghesquiere, S | 1 |
| Per, H | 1 |
| Kondolot, M | 1 |
| Ichida, K | 1 |
| Poyrazoğlu, G | 1 |
| Kumandaş, S | 1 |
| Engelen, J | 1 |
| Dundar, M | 1 |
| Cağlayan, AO | 1 |
| Seidahmed, MZ | 1 |
| Alyamani, EA | 1 |
| Rashed, MS | 1 |
| Saadallah, AA | 1 |
| Abdelbasit, OB | 1 |
| Shaheed, MM | 1 |
| Rasheed, A | 1 |
| Hamid, FA | 1 |
| Sabry, MA | 1 |
| Boles, RG | 1 |
| Ment, LR | 1 |
| Meyn, MS | 1 |
| Horwich, AL | 1 |
| Kratz, LE | 1 |
| Rinaldo, P | 1 |
| Roth, A | 1 |
| Nogues, C | 1 |
| Monnet, JP | 1 |
| Ogier, H | 1 |
| Saudubray, JM | 1 |
4 other studies available for pteridines and Microcephaly
| Article | Year |
|---|---|
Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency.
Topics: Carbon-Carbon Lyases; Carrier Proteins; Coenzymes; Developmental Disabilities; Feeding Behavior; Fem | 2010 |
Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency.
Topics: Abnormalities, Multiple; Arabs; Base Sequence; Binding Sites; Coenzymes; Consanguinity; Dimerization | 2005 |
Short-term response to dietary therapy in molybdenum cofactor deficiency.
Topics: Acidosis, Lactic; Coenzymes; Cysteine; Developmental Disabilities; Female; Food, Fortified; Humans; | 1993 |
Anatomo-pathological findings in a case of combined deficiency of sulphite oxidase and xanthine oxidase with a defect of molybdenum cofactor.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Brain; Child, Preschool; Coenzymes; Femal | 1985 |