pteridines has been researched along with Purine Pyrimidine Metabolism, Inborn Errors in 15 studies
| Excerpt | Relevance | Reference |
|---|---|---|
| "Lens dislocation is found in nearly all patients after neonatal age." | 1.30 | Spherophakia associated with molybdenum cofactor deficiency. ( Briscioli, V; Caruso, U; Dorche, C; Fortuna, R; Mancini, G; Minniti, G; Parini, R; Selicorni, A; Vismara, E, 1997) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 3 (20.00) | 18.7374 |
| 1990's | 8 (53.33) | 18.2507 |
| 2000's | 3 (20.00) | 29.6817 |
| 2010's | 1 (6.67) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Veldman, A | 1 |
| Santamaria-Araujo, JA | 1 |
| Sollazzo, S | 1 |
| Pitt, J | 1 |
| Gianello, R | 1 |
| Yaplito-Lee, J | 1 |
| Wong, F | 1 |
| Ramsden, CA | 1 |
| Reiss, J | 1 |
| Cook, I | 1 |
| Fairweather, J | 1 |
| Schwarz, G | 1 |
| Ichida, K | 6 |
| Ogier, H | 2 |
| Saudubray, JM | 2 |
| Charpentier, C | 1 |
| Munnich, A | 1 |
| Perignon, JL | 1 |
| Kesseler, A | 1 |
| Frezal, J | 1 |
| Mize, C | 1 |
| Johnson, JL | 1 |
| Rajagopalan, KV | 1 |
| van Gennip, AH | 1 |
| Mandel, H | 1 |
| Stroomer, LE | 1 |
| van Cruchten, AG | 1 |
| Sumi, S | 1 |
| Wada, Y | 1 |
| Amaya, Y | 1 |
| Kamatani, N | 1 |
| Nishino, T | 2 |
| Hosoya, T | 4 |
| Sakai, O | 1 |
| Parini, R | 1 |
| Briscioli, V | 1 |
| Caruso, U | 1 |
| Dorche, C | 1 |
| Fortuna, R | 1 |
| Minniti, G | 1 |
| Selicorni, A | 1 |
| Vismara, E | 1 |
| Mancini, G | 1 |
| Coşkun, T | 1 |
| Yetük, M | 1 |
| Yurdakök, M | 1 |
| Tekinalp, G | 1 |
| Matsumura, T | 1 |
| Sakuma, R | 1 |
| Aukett, A | 1 |
| Bennett, MJ | 1 |
| Hosking, GP | 1 |
| Roth, A | 1 |
| Nogues, C | 1 |
| Monnet, JP | 1 |
5 reviews available for pteridines and Purine Pyrimidine Metabolism, Inborn Errors
| Article | Year |
|---|---|
[Primary underproductive hypouricemia].
Topics: Allopurinol; Coenzymes; Diagnosis, Differential; Humans; Liver Diseases; Metalloproteins; Molybdenum | 2003 |
[Hereditary xanthinuria and molybdenum cofactor deficiency].
Topics: Coenzymes; Genes, Recessive; Humans; Metalloproteins; Molybdenum Cofactors; Mutation; Pteridines; Pu | 2003 |
[Xanthine oxidase deficiency (hereditary xanthinuria), molybdenum cofactor deficiency].
Topics: Central Nervous System Diseases; Coenzymes; Diagnosis, Differential; Diet Therapy; Humans; Infant, N | 1996 |
[Classical xanthinuria (type I and II)].
Topics: Aldehyde Oxidase; Aldehyde Oxidoreductases; Coenzymes; Diagnosis, Differential; Humans; Metalloprote | 1998 |
[Molybdenum cofactor deficiency].
Topics: Aldehyde Oxidase; Aldehyde Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Coenzymes; Diagnos | 1998 |
10 other studies available for pteridines and Purine Pyrimidine Metabolism, Inborn Errors
| Article | Year |
|---|---|
Successful treatment of molybdenum cofactor deficiency type A with cPMP.
Topics: Brain Diseases, Metabolic, Inborn; Coenzymes; Diagnosis, Differential; Dose-Response Relationship, D | 2010 |
[Double deficiency of sulfite and xanthine oxidase causing encephalopathy and due to a hereditary anomaly in the metabolism of molybdenum].
Topics: Brain Diseases, Metabolic; Coenzymes; Consanguinity; Female; Humans; Infant; Metalloproteins; Molybd | 1982 |
Defective molybdopterin biosynthesis: clinical heterogeneity associated with molybdenum cofactor deficiency.
Topics: Adult; Coenzymes; Humans; Male; Metalloproteins; Molybdenum; Molybdenum Cofactors; Pteridines; Purin | 1995 |
Effect of allopurinol on the xanthinuria in a patient with molybdenum cofactor deficiency.
Topics: Allopurinol; Coenzymes; Female; Humans; Male; Metabolism, Inborn Errors; Metalloproteins; Molybdenum | 1994 |
Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria.
Topics: Adult; Aged; Codon; Coenzymes; DNA Primers; Duodenum; Humans; Intestinal Mucosa; Male; Metalloprotei | 1997 |
Spherophakia associated with molybdenum cofactor deficiency.
Topics: Child; Coenzymes; Fatal Outcome; Genes, Recessive; Humans; Lens Subluxation; Lens, Crystalline; Male | 1997 |
Blood uric acid as a pointer to the diagnosis of molybdenum cofactor deficiency.
Topics: Coenzymes; Diagnosis, Differential; Fatal Outcome; Humans; Infant, Newborn; Male; Metalloproteins; M | 1998 |
Mutation of human molybdenum cofactor sulfurase gene is responsible for classical xanthinuria type II.
Topics: Aged; Aldehyde Oxidase; Aldehyde Oxidoreductases; Cloning, Molecular; Coenzymes; DNA Mutational Anal | 2001 |
Molybdenum co-factor deficiency: an easily missed inborn error of metabolism.
Topics: Aldehyde Oxidase; Aldehyde Oxidoreductases; Chromosome Aberrations; Chromosome Disorders; Coenzymes; | 1988 |
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 |