pteridines has been researched along with Inborn Errors of Metabolism in 37 studies
| 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) |
| "We describe a new case of molybdenum cofactor deficiency, an underrecognized inborn error of metabolism that results in neonatal seizures and neurologic abnormalities." | 3.68 | Molybdenum cofactor deficiency. ( Arnold, GL; Goodman, SI; Greene, CL; Stout, JP, 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 | 11 (29.73) | 18.7374 |
| 1990's | 17 (45.95) | 18.2507 |
| 2000's | 7 (18.92) | 29.6817 |
| 2010's | 2 (5.41) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Arenas, M | 1 |
| Fairbanks, LD | 1 |
| Vijayakumar, K | 1 |
| Carr, L | 1 |
| Escuredo, E | 1 |
| Marinaki, AM | 1 |
| Dhondt, JL | 5 |
| Gümüş, H | 2 |
| Ghesquiere, S | 1 |
| Per, H | 2 |
| Kondolot, M | 1 |
| Ichida, K | 2 |
| Poyrazoğlu, G | 1 |
| Kumandaş, S | 2 |
| Engelen, J | 1 |
| Dundar, M | 1 |
| Cağlayan, AO | 1 |
| Teksam, O | 1 |
| Yurdakok, M | 2 |
| Coskun, T | 2 |
| Cağlayan, O | 1 |
| Kügler, S | 1 |
| Hahnewald, R | 1 |
| Garrido, M | 1 |
| Reiss, J | 4 |
| Serrano, M | 1 |
| Lizarraga, I | 1 |
| Dias, AP | 1 |
| Pérez-Dueñas, B | 1 |
| Vilaseca, MA | 1 |
| Artuch, R | 1 |
| Campistol, J | 1 |
| García-Cazorla, A | 1 |
| Hoganson, G | 1 |
| Berlow, S | 1 |
| Kaufman, S | 1 |
| Milstien, S | 1 |
| Schuett, V | 1 |
| Matalon, R | 1 |
| Naylor, E | 1 |
| Seifert, W | 1 |
| Leroux, B | 1 |
| Farriaux, JP | 2 |
| Largilliere, C | 1 |
| Leeming, RJ | 1 |
| Niederwieser, A | 1 |
| Blau, N | 2 |
| Wang, M | 1 |
| Joller, P | 1 |
| Atarés, M | 1 |
| Cardesa-Garcia, J | 1 |
| Johnson, JL | 3 |
| Rajagopalan, KV | 3 |
| van Gennip, AH | 1 |
| Mandel, H | 2 |
| Stroomer, LE | 1 |
| van Cruchten, AG | 1 |
| Boles, RG | 1 |
| Ment, LR | 1 |
| Meyn, MS | 1 |
| Horwich, AL | 1 |
| Kratz, LE | 1 |
| Rinaldo, P | 1 |
| Wadman, SK | 2 |
| Hansen, LK | 1 |
| Wulff, K | 1 |
| Dorche, C | 4 |
| Christensen, E | 2 |
| Arnold, GL | 1 |
| Greene, CL | 1 |
| Stout, JP | 1 |
| Goodman, SI | 1 |
| Bakker, HD | 1 |
| Kurlemann, G | 2 |
| Debus, O | 1 |
| Schuierer, G | 1 |
| de Klerk, JB | 1 |
| Thöny, B | 1 |
| Heizmann, CW | 1 |
| Kierat, L | 1 |
| Smeitink, JA | 1 |
| Duran, M | 2 |
| Bonioli, E | 1 |
| DiStefano, A | 1 |
| Palmieri, A | 1 |
| Bertola, A | 1 |
| Bellini, C | 1 |
| Caruso, U | 1 |
| Fantasia, AR | 1 |
| Minniti, G | 1 |
| Cohen, N | 1 |
| Mendel, RR | 1 |
| Stallmeyer, B | 1 |
| Zabot, MT | 2 |
| Dierks, T | 1 |
| Kaye, EM | 1 |
| Hyland, K | 1 |
| Larnaout, A | 1 |
| Belal, S | 1 |
| Miladi, N | 1 |
| Kaabachi, N | 1 |
| Mebazza, A | 1 |
| Hentati, F | 1 |
| Nagatsu, T | 1 |
| Ichinose, H | 1 |
| Kishikawa, M | 1 |
| Nakanishi, T | 1 |
| Shimizu, A | 1 |
| Yoshino, M | 1 |
| Kavukçu, S | 1 |
| Soylu, A | 1 |
| Sahin, B | 1 |
| Türkmen, M | 1 |
| Aydin, A | 1 |
| Dirik, E | 1 |
| Hayte, JM | 1 |
| Smith, I | 1 |
| Roesel, RA | 1 |
| Bowyer, F | 1 |
| Blankenship, PR | 1 |
| Hommes, FA | 1 |
| Matsuo, M | 1 |
| Maeda, E | 1 |
| Nakamura, H | 1 |
| Saiki, K | 1 |
| Lagier, P | 1 |
| Tessonnier, JM | 1 |
| Collet, S | 1 |
| Lando, A | 1 |
| Divry, P | 1 |
| Vianet-Liaud, C | 1 |
| Desjacques, P | 1 |
| Bimar, J | 1 |
| Hervé, F | 1 |
| Berger, JP | 1 |
| Soulier, J | 1 |
| Beemer, FA | 1 |
| Cats, BP | 1 |
| Tompkins, R | 1 |
2 reviews available for pteridines and Inborn Errors of Metabolism
| Article | Year |
|---|---|
Regulation of pteridine-requiring enzymes by the cofactor tetrahydrobiopterin.
Topics: Amino Acid Sequence; Animals; Biopterins; Coenzymes; Enzyme Activation; Enzymes; Humans; Metabolism, | 1999 |
[Metabolism of non-conjugated pteridines in man].
Topics: Biopterins; Central Nervous System Diseases; Chromatography, High Pressure Liquid; Humans; Immunity, | 1989 |
35 other studies available for pteridines and Inborn Errors of Metabolism
| Article | Year |
|---|---|
An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency.
Topics: Alternative Splicing; Base Sequence; Carbon-Carbon Lyases; Child; Coenzymes; DNA Mutational Analysis | 2009 |
Lessons from 30 years of selective screening for tetrahydrobiopterin deficiency.
Topics: Biomarkers; Biopterins; Dihydropteridine Reductase; GTP Cyclohydrolase; Humans; Hydro-Lyases; Infant | 2010 |
Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency.
Topics: Carbon-Carbon Lyases; Carrier Proteins; Coenzymes; Developmental Disabilities; Feeding Behavior; Fem | 2010 |
Molybdenum cofactor deficiency presenting with severe metabolic acidosis and intracranial hemorrhage.
Topics: Acidosis, Lactic; Coenzymes; Dandy-Walker Syndrome; Female; Humans; Infant, Newborn; Intracranial He | 2005 |
Molybdenum cofactor deficiency: clinical features in a Turkish patient.
Topics: Adult; Brain Diseases, Metabolic, Inborn; Coenzymes; DNA Mutational Analysis; Family Health; Female; | 2007 |
Long-term rescue of a lethal inherited disease by adeno-associated virus-mediated gene transfer in a mouse model of molybdenum-cofactor deficiency.
Topics: Animals; Animals, Newborn; Carbon-Carbon Lyases; Coenzymes; Dependovirus; Gene Transfer Techniques; | 2007 |
Cranial ultrasound and chronological changes in molybdenum cofactor deficiency.
Topics: Atrophy; Brain Diseases; Calcinosis; Coenzymes; Echoencephalography; Humans; Infant, Newborn; Male; | 2007 |
Biopterin synthesis defects: problems in diagnosis.
Topics: Biopterins; Diet; Female; Humans; Infant, Newborn; Metabolism, Inborn Errors; Neopterin; Neurotransm | 1984 |
Dihydrobiopterin biosynthesis deficiency.
Topics: Biopterins; Female; Humans; Infant; Infant, Newborn; Metabolism, Inborn Errors; Neopterin; Phenylala | 1983 |
GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia.
Topics: Adolescent; Aminohydrolases; Biopterins; Child; Child, Preschool; Dopamine; Female; GTP Cyclohydrola | 1984 |
An HPLC assay for detection of elevated urinary S-sulphocysteine, a metabolic marker of sulphite oxidase deficiency.
Topics: Amino Acids; Biomarkers; Chromatography, High Pressure Liquid; Coenzymes; Cysteine; Humans; Metaboli | 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 |
Short-term response to dietary therapy in molybdenum cofactor deficiency.
Topics: Acidosis, Lactic; Coenzymes; Cysteine; Developmental Disabilities; Female; Food, Fortified; Humans; | 1993 |
Human molybdenum cofactor deficiency.
Topics: Biomarkers; Coenzymes; Humans; Metabolism, Inborn Errors; Metalloproteins; Molybdenum; Molybdenum Co | 1993 |
Molybdopterin biosynthesis in man. Properties of the converting factor in liver tissue from a molybdenum cofactor deficient patient.
Topics: Coenzymes; Escherichia coli; Humans; Liver; Metabolism, Inborn Errors; Metalloproteins; Molybdenum; | 1993 |
Molybdenum cofactor deficiency in two siblings: diagnostic difficulties.
Topics: Coenzymes; Female; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Metalloproteins; Molybd | 1993 |
Molybdenum cofactor deficiency.
Topics: Coenzymes; Female; Genes, Recessive; Humans; Infant, Newborn; Metabolism, Inborn Errors; Metalloprot | 1993 |
[Remember hereditary metabolic diseases in children in which no satisfactory diagnosis can be established].
Topics: Amidohydrolases; Amino Acid Metabolism, Inborn Errors; Biotinidase; Child; Child, Preschool; Coenzym | 1993 |
Dextromethorphan in molybdenum cofactor deficiency.
Topics: Anticonvulsants; Child, Preschool; Coenzymes; Dextromethorphan; Epilepsy; Humans; Male; Metabolism, | 1996 |
Tetrahydrobiopterin loading test in xanthine dehydrogenase and molybdenum cofactor deficiencies.
Topics: Administration, Oral; Adult; Antioxidants; Biopterins; Child, Preschool; Coenzymes; Female; Heterozy | 1996 |
Combined deficiency of xanthine oxidase and sulphite oxidase due to a deficiency of molybdenum cofactor.
Topics: Coenzymes; Female; Fibroblasts; Humans; Hypoxanthine; Infant; Metabolism, Inborn Errors; Metalloprot | 1996 |
Hypouricemia and molybdenum-cofactor deficiency.
Topics: Coenzymes; Humans; Infant, Newborn; Metabolism, Inborn Errors; Metalloproteins; Molybdenum Cofactors | 1997 |
Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency.
Topics: Amino Acid Sequence; Base Sequence; Carbon-Carbon Lyases; Coenzymes; Conserved Sequence; Female; Hum | 1998 |
Amino acids and the brain: too much, too little, or just inappropriate use of a good thing?
Topics: Amino Acids; Brain; Coenzymes; Humans; Metabolism, Inborn Errors; Metalloproteins; Molybdenum Cofact | 1998 |
Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A.
Topics: Amino Acid Sequence; Carbon-Carbon Lyases; Coenzymes; Europe; Exons; Genes, Recessive; Genetic Compl | 1998 |
Juvenile form of dihydropteridine reductase deficiency in 2 Tunisian patients.
Topics: Adult; Age of Onset; Child; Consanguinity; Disease Progression; Follow-Up Studies; Humans; Male; Met | 1998 |
Detection by mass spectrometry of highly increased amount of S-sulfonated transthyretin in serum from a patient with molybdenum cofactor deficiency.
Topics: Child, Preschool; Coenzymes; Humans; Infant; Male; Metabolism, Inborn Errors; Metalloproteins; Molyb | 2000 |
Clinical quiz. Molybdenum cofactor deficiency.
Topics: Coenzymes; Encephalomalacia; Hematuria; Humans; Infant; Male; Metabolism, Inborn Errors; Metalloprot | 2000 |
Birthweight in patients with defective biopterin metabolism.
Topics: Biopterins; Birth Weight; Humans; Infant; Metabolism, Inborn Errors; NADH, NADPH Oxidoreductases; Ph | 1985 |
Combined xanthine and sulphite oxidase defect due to a deficiency of molybdenum cofactor.
Topics: Coenzymes; Humans; Infant, Newborn; Liver; Male; Metabolism, Inborn Errors; Metalloproteins; Molybde | 1986 |
Molybdenum cofactor deficiency: another inborn error of metabolism with neonatal onset.
Topics: Coenzymes; Humans; Infant, Newborn; Metabolism, Inborn Errors; Metalloproteins; Molybdenum Cofactors | 1988 |
[Combined sulfite and xanthine oxidase deficiency due to an anomaly in the metabolism of molybdenum cofactor].
Topics: Coenzymes; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Metalloproteins; Molybdenum; Mo | 1986 |
[Sulfite and xanthine oxidase deficiency: a diagnosis based on 2 simple tests].
Topics: Coenzymes; Female; Humans; Infant; Metabolism, Inborn Errors; Metalloproteins; Methods; Molybdenum; | 1986 |
Absence of hepatic molybdenum cofactor. An inborn error of metabolism associated with lens dislocation.
Topics: Coenzymes; Female; Humans; Infant; Infant, Newborn; Lens Subluxation; Liver; Male; Metabolism, Inbor | 1985 |
Biochemical effects of the gene g on the development of the axolotl Ambystoma mexicanum.
Topics: Animals; Cell Membrane; Chromatography, Gas; Congenital Abnormalities; Electrophoresis; Enzymes; Est | 1970 |