glutaric acid has been researched along with Metabolism, Inborn Errors in 72 studies
glutaric acid: RN given refers to parent cpd
glutaric acid : An alpha,omega-dicarboxylic acid that is a linear five-carbon dicarboxylic acid.
Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
| Excerpt | Relevance | Reference |
|---|---|---|
| "We report a child initially diagnosed with promethazine-induced dystonia despite a lack of response to diphenhydramine therapy." | 7.71 | Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration. ( Koeberl, DD; Lesser, PS; Millington, DS; Smith, WE, 2001) |
| "Although acute pancreatitis in glutaric aciduria type II has been reported previously, this is the first reported case of recurrent pancreatitis occurring in glutaric aciduria type II." | 5.32 | Riboflavin-responsive glutaric aciduria type II with recurrent pancreatitis. ( Chen, LH; Jong, YJ; Lai, CL; Liang, WC; Tsai, KB, 2004) |
| " Testing of 8 true positive MS MS samples correctly identified potentially pathogenic compound heterozygote genotypes in 2 cases of citrullinemia type 1 and one case each of methylmalonic acidemia, isobutyryl-CoA dehydrogenase deficiency, short chain acyl-CoA dehydrogenase deficiency and glutaric acid type II and heterozygous genotypes in 2 cases of autosomal dominant methioninemia." | 3.91 | A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism. ( Bai, J; Cram, DS; Gong, Y; Gu, W; Liu, Y; Mu, W; Wang, W; Wu, W; Xie, X; Xu, M; Xue, J; Yang, J; Zhang, X; Zhang, Y, 2019) |
| " Seven infants diagnosed with methylmalonyl-CoA mutase deficiency (n=2), ornithine carbamoyltransferase deficiency (n=1), propionic acidaemia (n=1), isovaleric acidaemia (n=1), maple syrup urine disease (n=1) and glutaric acidemia type I (n=1) were tried with breastfeeding over two years." | 3.73 | Breastfeeding experience in inborn errors of metabolism other than phenylketonuria. ( Baykal, T; Demir, F; Demirkol, M; Huner, G, 2005) |
| "0%) were diagnosed as organic acidemias among the 1000 patients, including 20 methylmalonic acidemia, 6 propionic acidemia, 3 isovaleric acidemia, 3 glutaric acidemia type I, 3 glutaric acidemia type II, 2 biotinidas deficiency, 1 3-methylcrotonyl-CoA carboxylase deficiency, 1 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, and 1 beta-keto thiolase deficiency." | 3.73 | [Application of tandem mass spectrometry in diagnosis of organic acidemias]. ( Gao, XL; Gu, XF; Han, LS; Qiu, WJ; Ye, J, 2005) |
| " The children required CSF shunting procedures for hydrocephalus and subdural fluid collections, which were performed under total intravenous anesthesia with propofol and remifentanil." | 3.73 | Anesthetic management in two siblings with glutaric aciduria type 1. ( Collado, IC; Hernández-Palazón, J; Martínez-Lage, JF; Sánchez-Ródenas, L, 2006) |
| "We report a child initially diagnosed with promethazine-induced dystonia despite a lack of response to diphenhydramine therapy." | 3.71 | Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration. ( Koeberl, DD; Lesser, PS; Millington, DS; Smith, WE, 2001) |
| "Glutaric aciduria type I is an autosomal recessive disorder of organic acid metabolism secondary to glutaryl-coenzyme A (CoA) dehydrogenase deficiency." | 1.33 | Glutaric aciduria type I: a neuroimaging diagnosis? ( Roach, ES; Santos, CC, 2005) |
| "Glutaric aciduria type 1 is an inborn error of metabolism due to deficiency of glutaryl-CoA dehydrogenase." | 1.32 | Bilateral pallidotomy for severe dystonia in an 18-month-old child with glutaric aciduria. ( Lyons, KE; Overman, JW; Pahwa, R; Rakocevic, G; Wilkinson, SB, 2004) |
| "Although acute pancreatitis in glutaric aciduria type II has been reported previously, this is the first reported case of recurrent pancreatitis occurring in glutaric aciduria type II." | 1.32 | Riboflavin-responsive glutaric aciduria type II with recurrent pancreatitis. ( Chen, LH; Jong, YJ; Lai, CL; Liang, WC; Tsai, KB, 2004) |
| "Glutaric aciduria type I is an uncommon inborn error of metabolism." | 1.31 | Glutaric aciduria type I diagnosed after poliovirus immunization: magnetic resonance findings. ( Alkan, A; Baysal, T; Kutlu, R; Sigirci, A; Yakinci, C, 2002) |
| "Hypocarnitinemia was a common finding." | 1.29 | Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA-dehydrogenase deficiency. ( Aparicio, M; Font, LM; Garcia, MJ; Garzo, C; Lorenzo, G; Martinez Pardo, M; Martinez-Bermejo, A; Merinero, B; Pascual Castroviejo, I; Pérez-Cerdá, C, 1995) |
| "Treatment with carnitine, started during the third period of artificial ventilation, led to some improvement of muscle strength, but he still could not breathe without support." | 1.27 | Glutaric aciduria type II: treatment with riboflavine, carnitine and insulin. ( Blom, W; Giesberts, MA; Mooy, PD; Przyrembel, H; Scholte, HR; van Gelderen, HH, 1984) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 15 (20.83) | 18.7374 |
| 1990's | 27 (37.50) | 18.2507 |
| 2000's | 27 (37.50) | 29.6817 |
| 2010's | 2 (2.78) | 24.3611 |
| 2020's | 1 (1.39) | 2.80 |
| Authors | Studies |
|---|---|
| Gonzalez Melo, M | 1 |
| Fontana, AO | 1 |
| Viertl, D | 1 |
| Allenbach, G | 1 |
| Prior, JO | 1 |
| Rotman, S | 1 |
| Feichtinger, RG | 1 |
| Mayr, JA | 1 |
| Costanzo, M | 1 |
| Caterino, M | 1 |
| Ruoppolo, M | 1 |
| Braissant, O | 1 |
| Barbey, F | 1 |
| Ballhausen, D | 1 |
| Wang, W | 1 |
| Yang, J | 1 |
| Xue, J | 1 |
| Mu, W | 1 |
| Zhang, X | 1 |
| Wu, W | 1 |
| Xu, M | 1 |
| Gong, Y | 1 |
| Liu, Y | 1 |
| Zhang, Y | 1 |
| Xie, X | 1 |
| Gu, W | 1 |
| Bai, J | 1 |
| Cram, DS | 1 |
| Sauer, SW | 1 |
| Opp, S | 1 |
| Mahringer, A | 1 |
| Kamiński, MM | 1 |
| Thiel, C | 1 |
| Okun, JG | 1 |
| Fricker, G | 1 |
| Morath, MA | 1 |
| Kölker, S | 1 |
| Yamaguchi, S | 9 |
| Das, AM | 1 |
| Lücke, T | 1 |
| Ullrich, K | 2 |
| Olsen, RK | 1 |
| Andresen, BS | 1 |
| Christensen, E | 2 |
| Bross, P | 1 |
| Skovby, F | 1 |
| Gregersen, N | 1 |
| García, A | 2 |
| Barbas, C | 2 |
| Liang, Y | 1 |
| Liu, L | 1 |
| Wei, H | 1 |
| Luo, XP | 1 |
| Wang, MT | 1 |
| Rakocevic, G | 1 |
| Lyons, KE | 1 |
| Wilkinson, SB | 1 |
| Overman, JW | 1 |
| Pahwa, R | 1 |
| Liang, WC | 1 |
| Tsai, KB | 1 |
| Lai, CL | 1 |
| Chen, LH | 1 |
| Jong, YJ | 1 |
| Huner, G | 1 |
| Baykal, T | 1 |
| Demir, F | 1 |
| Demirkol, M | 1 |
| Hasegawa, Y | 1 |
| Iga, M | 1 |
| Kimura, M | 1 |
| Shigematsu, Y | 1 |
| Han, LS | 1 |
| Gao, XL | 1 |
| Ye, J | 1 |
| Qiu, WJ | 1 |
| Gu, XF | 1 |
| Al-Dirbashi, OY | 1 |
| Jacob, M | 1 |
| Al-Amoudi, M | 1 |
| Al-Kahtani, K | 1 |
| Al-Odaib, A | 1 |
| El-Badaoui, F | 1 |
| Rashed, MS | 2 |
| Santos, CC | 1 |
| Roach, ES | 1 |
| Liu, A | 1 |
| Pasquali, M | 1 |
| Hernández-Palazón, J | 1 |
| Sánchez-Ródenas, L | 1 |
| Martínez-Lage, JF | 1 |
| Collado, IC | 1 |
| Mühlhausen, C | 1 |
| Ott, N | 1 |
| Chalajour, F | 1 |
| Tilki, D | 1 |
| Freudenberg, F | 1 |
| Shahhossini, M | 1 |
| Thiem, J | 1 |
| Braulke, T | 1 |
| Ergün, S | 1 |
| Beresford, MW | 1 |
| Pourfarzam, M | 1 |
| Turnbull, DM | 2 |
| Davidson, JE | 1 |
| Garcia, P | 1 |
| Martins, E | 1 |
| Diogo, L | 1 |
| Rocha, H | 1 |
| Marcão, A | 1 |
| Gaspar, E | 1 |
| Almeida, M | 1 |
| Vaz, C | 1 |
| Soares, I | 1 |
| Barbot, C | 1 |
| Vilarinho, L | 1 |
| Mooy, PD | 2 |
| Przyrembel, H | 2 |
| Giesberts, MA | 2 |
| Scholte, HR | 2 |
| Blom, W | 2 |
| van Gelderen, HH | 2 |
| Goodman, SI | 10 |
| Frerman, FE | 8 |
| Luyt-Houwen, IE | 1 |
| Dunger, DB | 1 |
| Snodgrass, GJ | 1 |
| Sternberg, B | 1 |
| Frenkel, AL | 1 |
| Plouin, P | 1 |
| Monod, N | 1 |
| Reale, M | 1 |
| Berlow, S | 1 |
| Mitchell, G | 1 |
| Saudubray, JM | 1 |
| Gubler, MC | 1 |
| Habib, R | 1 |
| Ogier, H | 1 |
| Frezal, J | 1 |
| Boue, J | 1 |
| Shevell, MI | 1 |
| Didomenicantonio, G | 1 |
| Sylvain, M | 1 |
| Arnold, DL | 1 |
| O'Gorman, AM | 1 |
| Scriver, CR | 1 |
| Brismar, J | 1 |
| Ozand, PT | 2 |
| Morton, DH | 1 |
| Bonham, JR | 1 |
| Downing, M | 1 |
| Pollitt, RJ | 1 |
| Manning, NJ | 1 |
| Carpenter, KH | 1 |
| Olpin, SE | 1 |
| Allen, JC | 1 |
| Worthy, E | 1 |
| Stöckler, S | 1 |
| Radner, H | 1 |
| Karpf, EF | 1 |
| Hauer, A | 1 |
| Ebner, F | 1 |
| Merinero, B | 2 |
| Pérez-Cerdá, C | 1 |
| Font, LM | 1 |
| Garcia, MJ | 1 |
| Aparicio, M | 1 |
| Lorenzo, G | 1 |
| Martinez Pardo, M | 1 |
| Garzo, C | 1 |
| Martinez-Bermejo, A | 1 |
| Pascual Castroviejo, I | 1 |
| Jariego, CM | 1 |
| Hernanz, A | 1 |
| Pfluger, T | 1 |
| Weil, S | 1 |
| Muntau, A | 1 |
| Willemsen, UF | 1 |
| Hahn, K | 1 |
| Hoffmann, GF | 3 |
| Naughten, ER | 1 |
| Aguilar, R | 1 |
| Castro, M | 1 |
| Forstner, R | 1 |
| Gassner, I | 1 |
| Heideman, P | 1 |
| De Klerk, JB | 1 |
| Lawrenz-Wolf, B | 1 |
| Doringer, E | 1 |
| Weiss-Wichert, P | 1 |
| Tröger, J | 1 |
| Colombo, JP | 1 |
| Plöchl, E | 1 |
| Halket, JM | 1 |
| Przyborowska, A | 1 |
| Stein, SE | 1 |
| Mallard, WG | 1 |
| Down, S | 1 |
| Chalmers, RA | 1 |
| Ulrich, T | 1 |
| Champion, MP | 1 |
| Lee, PJ | 1 |
| Hagen, T | 2 |
| Korson, MS | 2 |
| Sakamoto, M | 1 |
| Evans, JE | 1 |
| Zschocke, J | 1 |
| al-Essa, MA | 1 |
| Bakheet, SM | 1 |
| Patay, ZJ | 1 |
| Busquets, C | 1 |
| Coll, MJ | 1 |
| Ugarte, M | 1 |
| Ruiz, MA | 1 |
| Martinez Bermejo, A | 1 |
| Ribes, A | 1 |
| Tang, NL | 1 |
| Hui, J | 1 |
| Law, LK | 1 |
| Lam, YY | 1 |
| Chan, KY | 1 |
| Yeung, WL | 1 |
| Chan, AY | 1 |
| Cheung, KL | 1 |
| Fok, TF | 1 |
| Smith, WE | 1 |
| Millington, DS | 2 |
| Koeberl, DD | 1 |
| Lesser, PS | 1 |
| Zafeiriou, DI | 1 |
| Sewell, A | 1 |
| Savvopoulou-Augoustidou, P | 1 |
| Gombakis, N | 1 |
| Katzos, G | 1 |
| Muranjan, MM | 1 |
| Kantharia, V | 1 |
| Bavdekar, SB | 1 |
| Ursekar, M | 1 |
| Alkan, A | 1 |
| Baysal, T | 1 |
| Yakinci, C | 1 |
| Sigirci, A | 1 |
| Kutlu, R | 1 |
| Colombo, I | 1 |
| DiDonato, S | 1 |
| Volta, M | 1 |
| Gellera, C | 1 |
| Garavaglia, B | 1 |
| Montermini, L | 1 |
| Finocchiaro, G | 1 |
| Bemelen, KF | 1 |
| Indo, Y | 2 |
| Glassberg, R | 2 |
| Yokota, I | 2 |
| Tanaka, K | 2 |
| Shimizu, N | 1 |
| Orii, T | 3 |
| Fukao, T | 1 |
| Suzuki, Y | 2 |
| Maeda, K | 2 |
| Hashimoto, T | 3 |
| Previs, SF | 1 |
| Rinaldo, P | 1 |
| Kelley, RI | 1 |
| Oshima, M | 1 |
| Kamiya, M | 1 |
| Eimoto, T | 1 |
| Kishimoto, H | 1 |
| Tsudzuki, T | 1 |
| Morishita, H | 1 |
| Wada, Y | 1 |
| Wakabayashi, T | 1 |
| Loehr, JP | 3 |
| Wilson, GN | 1 |
| de Chadarévian, JP | 1 |
| Kaplan, P | 1 |
| Chow, CW | 1 |
| Brown, GK | 1 |
| Pitt, JJ | 1 |
| Danks, DM | 1 |
| Shepherd, IM | 1 |
| Aynsley-Green, A | 1 |
| Henderson, HE | 1 |
| Balla, R | 1 |
| de Jong, G | 1 |
| Piek, CJ | 1 |
| Mienie, LJ | 1 |
| Erasmus, E | 1 |
| Yasuda, K | 1 |
| Kohno, Y | 1 |
| Maltby, DA | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Cortical Excitability in Succinic Semialdehyde Dehydrogenase Deficiency[NCT00132366] | 60 participants | Observational | 2005-08-16 | Completed | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
8 reviews available for glutaric acid and Metabolism, Inborn Errors
| Article | Year |
|---|---|
[Organic acid disorders: cerebral organic acidemia].
Topics: Brain Diseases, Metabolic; Canavan Disease; Glutarates; Glycerol; Humans; Hydroxybutyrates; Infant; | 2002 |
Capillary electrophoresis for the determination of organic acidurias in body fluids: a review.
Topics: Carboxylic Acids; Electrophoresis, Capillary; Glutarates; Humans; Infant, Newborn; Lactates; Lactic | 2003 |
[Glutaric aciduria type 2].
Topics: Electron-Transferring Flavoproteins; Fatty Acid Desaturases; Flavoproteins; Glutarates; Humans; Iron | 1998 |
Glutaric aciduria type I: from clinical, biochemical and molecular diversity to successful therapy.
Topics: Animals; Glutarates; Humans; Metabolism, Inborn Errors | 1999 |
[Aciduria, glutaric (type 1)].
Topics: Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Metabolism, Inborn Errors; Oxidoreductases; Oxidored | 2001 |
[Aciduria, glutaric (type 2)].
Topics: Fatty Acid Desaturases; Glutarates; Humans; Metabolism, Inborn Errors | 2001 |
Prenatal diagnosis of glutaric acidemias.
Topics: Electron-Transferring Flavoproteins; Fatty Acid Desaturases; Female; Glutarates; Glutaryl-CoA Dehydr | 2001 |
Glutaric aciduria type II: review of the phenotype and report of an unusual glomerulopathy.
Topics: Abnormalities, Multiple; Autopsy; Basement Membrane; Electron-Transferring Flavoproteins; Fatty Acid | 1989 |
1 trial available for glutaric acid and Metabolism, Inborn Errors
| Article | Year |
|---|---|
Glutaric aciduria type I: ultrasonographic demonstration of early signs.
Topics: Abnormalities, Multiple; Brain; Diagnosis, Differential; Echoencephalography; Female; Follow-Up Stud | 1999 |
63 other studies available for glutaric acid and Metabolism, Inborn Errors
| Article | Year |
|---|---|
A knock-in rat model unravels acute and chronic renal toxicity in glutaric aciduria type I.
Topics: Animals; Computational Biology; Disease Models, Animal; Female; Gene Knock-In Techniques; Glomerular | 2021 |
A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.
Topics: Acyl-CoA Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Citrullinemia; Exome; Exome Sequencing | 2019 |
Glutaric aciduria type I and methylmalonic aciduria: simulation of cerebral import and export of accumulating neurotoxic dicarboxylic acids in in vitro models of the blood-brain barrier and the choroid plexus.
Topics: Animals; Base Sequence; Blood-Brain Barrier; Brain; Cells, Cultured; Choroid Plexus; Dicarboxylic Ac | 2010 |
Glutaric aciduria I: creatine supplementation restores creatinephosphate levels in mixed cortex cells from rat incubated with 3-hydroxyglutarate.
Topics: Adenine Nucleotides; Animals; Animals, Newborn; Cerebral Cortex; Creatine; Glutarates; Metabolism, I | 2003 |
Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.
Topics: Acyl-CoA Dehydrogenase; Age of Onset; Alternative Splicing; Cells, Cultured; Databases, Genetic; DNA | 2003 |
[Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)].
Topics: Acyl-CoA Dehydrogenase; Adolescent; Age of Onset; Child; Female; Gas Chromatography-Mass Spectrometr | 2003 |
Bilateral pallidotomy for severe dystonia in an 18-month-old child with glutaric aciduria.
Topics: Dystonic Disorders; Globus Pallidus; Glutarates; Humans; Infant; Magnetic Resonance Imaging; Male; M | 2004 |
Riboflavin-responsive glutaric aciduria type II with recurrent pancreatitis.
Topics: Acyl-CoA Dehydrogenase; Adult; Female; Glutarates; Humans; Male; Metabolism, Inborn Errors; Pancreat | 2004 |
Breastfeeding experience in inborn errors of metabolism other than phenylketonuria.
Topics: Amino Acid Metabolism, Inborn Errors; Breast Feeding; Child, Preschool; Follow-Up Studies; Glutarate | 2005 |
Prenatal diagnosis for organic acid disorders using two mass spectrometric methods, gas chromatography mass spectrometry and tandem mass spectrometry.
Topics: Amniotic Fluid; Carboxylic Acids; Carnitine; Female; Fetal Diseases; Gas Chromatography-Mass Spectro | 2005 |
[Application of tandem mass spectrometry in diagnosis of organic acidemias].
Topics: Adolescent; Child; Child, Preschool; Female; Filtration; Gas Chromatography-Mass Spectrometry; Gluta | 2005 |
Quantification of glutaric and 3-hydroxyglutaric acids in urine of glutaric acidemia type I patients by HPLC with intramolecular excimer-forming fluorescence derivatization.
Topics: Case-Control Studies; Chromatography, High Pressure Liquid; Glutarates; Humans; Metabolism, Inborn E | 2005 |
Glutaric aciduria type I: a neuroimaging diagnosis?
Topics: Brain; Female; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Infant; Magnetic Resonance Imaging; M | 2005 |
Acidified acetonitrile and methanol extractions for quantitative analysis of acylcarnitines in plasma by stable isotope dilution tandem mass spectrometry.
Topics: Acetonitriles; Carnitine; Chemical Fractionation; Glutarates; Humans; Isotope Labeling; Mass Spectro | 2005 |
Anesthetic management in two siblings with glutaric aciduria type 1.
Topics: Anesthesia; Anesthetics, Intravenous; Cerebrospinal Fluid Shunts; Child, Preschool; Dystonic Disorde | 2006 |
Endothelial effects of 3-hydroxyglutaric acid: implications for glutaric aciduria type I.
Topics: Actins; Antigens, CD; Cadherins; Endothelium, Vascular; Glutarates; Humans; Metabolism, Inborn Error | 2006 |
So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager.
Topics: Acyl-CoA Dehydrogenase; Adolescent; Carnitine; DNA Mutational Analysis; Electron-Transferring Flavop | 2006 |
Outcome of three cases of untreated maternal glutaric aciduria type I.
Topics: Adult; Arachnoid Cysts; Brain; Diagnosis, Differential; DNA; Female; Follow-Up Studies; Glutarates; | 2008 |
Glutaric aciduria type II: treatment with riboflavine, carnitine and insulin.
Topics: Biopsy; Carnitine; Fatty Acid Desaturases; Glutarates; Humans; Hypoglycemia; Infant; Insulin; Male; | 1984 |
Glutaric acidaemia type II (multiple acyl-CoA dehydrogenation deficiency).
Topics: Electron Transport; Electron-Transferring Flavoproteins; Fatty Acid Desaturases; Female; Flavoprotei | 1984 |
Glutaric aciduria type II: multiple defects in isolated muscle mitochondria and deficient beta-oxidation in fibroblasts.
Topics: Electron Transport; Fibroblasts; Glutarates; Humans; Infant; Male; Metabolism, Inborn Errors; Mitoch | 1984 |
Glutaryl-CoA dehydrogenase activity determined with intact electron-transport chain: application to glutaric aciduria type II.
Topics: Electron Transport; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Metabolism, Inborn Errors; Oxido | 1984 |
Glutaric aciduria type I presenting with hypoglycaemia.
Topics: Cells, Cultured; Child, Preschool; Female; Fibroblasts; Glutarates; Glutaryl-CoA Dehydrogenase; Huma | 1984 |
[Diagnoses to consider in newborn infants with inactive EEG tracings].
Topics: Brain Diseases; Cerebral Hemorrhage; Electroencephalography; Encephalomalacia; Glutarates; Heart Def | 1983 |
Glutaric acidemia type II: a form with deleterious intrauterine effects.
Topics: Abnormalities, Multiple; Female; Fetal Growth Retardation; Glutarates; Humans; Infant, Newborn; Male | 1983 |
Congenital anomalies in glutaric aciduria type 2.
Topics: Glutarates; Humans; Infant, Newborn; Kidney; Male; Metabolism, Inborn Errors | 1984 |
Glutaric acidemia type II: neuroimaging and spectroscopy evidence for developmental encephalomyopathy.
Topics: Age of Onset; Brain; Fatty Acid Desaturases; Glutarates; Humans; Infant, Newborn; Magnetic Resonance | 1995 |
CT and MR of the brain in glutaric acidemia type I: a review of 59 published cases and a report of 5 new patients.
Topics: Atrophy; Brain; Brain Damage, Chronic; Brain Diseases, Metabolic; Child, Preschool; Diagnosis, Diffe | 1995 |
Through my window--remarks at the 125th year celebration of Children's Hospital of Boston.
Topics: Adolescent; Boston; Child; Child, Preschool; Christianity; Fatty Acid Desaturases; Female; Glutarate | 1994 |
Quality assessment of urinary organic acid analysis.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Carboxylic Acids; Chromatography, Gas; Gas Chromato | 1994 |
Symmetric hypoplasia of the temporal cerebral lobes in an infant with glutaric aciduria type II (multiple acyl-coenzyme A dehydrogenase deficiency).
Topics: Fatal Outcome; Fatty Acid Desaturases; Glutarates; Humans; Infant, Newborn; Magnetic Resonance Imagi | 1994 |
Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA-dehydrogenase deficiency.
Topics: Brain; Carnitine; Child, Preschool; Electron Transport; Female; Glutarates; Glutaryl-CoA Dehydrogena | 1995 |
Determination of organic acids by capillary electrophoresis in screening of organic acidurias.
Topics: Carboxylic Acids; Child; Child, Preschool; Electrophoresis, Capillary; Glutarates; Humans; Infant; M | 1996 |
Glutaric aciduria type I: a serious pitfall if diagnosed too late.
Topics: Atrophy; Brain; Brain Damage, Chronic; Child, Preschool; Diagnosis, Differential; Female; Genes, Rec | 1997 |
Abuse or metabolic disorder?
Topics: Child Abuse; Diagnostic Errors; Glutarates; Hematoma, Subdural; Humans; Infant; Infant, Newborn; Met | 1998 |
Capillary electrophoresis for rapid profiling of organic acidurias.
Topics: Carboxylic Acids; Electrophoresis, Capillary; Glutarates; Humans; Infant; Infant, Newborn; Metabolis | 1998 |
Deconvolution gas chromatography/mass spectrometry of urinary organic acids--potential for pattern recognition and automated identification of metabolic disorders.
Topics: Acyl-CoA Dehydrogenase; Autoanalysis; Child, Preschool; Dicarboxylic Acids; Fatty Acid Desaturases; | 1999 |
Linking an Amish hereditary disease with cerebral palsy, a pediatrician challenges a dark inheritance.
Topics: Cerebral Palsy; Child; Christianity; Ethnicity; Founder Effect; Genetic Carrier Screening; Genetic L | 1997 |
Abuse or metabolic disorder.
Topics: Child Abuse; Diagnosis, Differential; Glutarates; Humans; Infant; Metabolism, Inborn Errors | 1999 |
Quantification of glutaric acid by isotope dilution mass spectrometry for patients with glutaric acidemia type I: selected ion monitoring vs. selected ion storage.
Topics: Child; Child, Preschool; Glutarates; Humans; Mass Spectrometry; Metabolism, Inborn Errors; Radioisot | 1999 |
A GC/MS/MS screening method for multiple organic acidemias from urine specimens.
Topics: Acids; Adipates; Automation; Biomarkers; Caprylates; Decanoic Acids; Dicarboxylic Acids; Fumarates; | 1999 |
Glutaric aciduria type II: observations in seven patients with neonatal- and late-onset disease.
Topics: Acidosis; Age of Onset; Brain; Carnitine; Child; Consanguinity; Female; Glutarates; Humans; Infant; | 2000 |
Prenatal molecular diagnosis of glutaric aciduria type I by direct mutation analysis.
Topics: Child, Preschool; DNA Mutational Analysis; Female; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; I | 2000 |
Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families.
Topics: Alternative Splicing; Animals; Child; China; Female; Genetic Carrier Screening; Glutarates; Glutaryl | 2000 |
Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration.
Topics: Consanguinity; Diagnosis, Differential; Diagnostic Errors; Dystonia; Female; Gastroenteritis; Glutar | 2001 |
L-2-Hydroxyglutaric aciduria presenting as status epilepticus.
Topics: Adolescent; Female; Glutarates; Humans; Hydroxy Acids; Magnetic Resonance Imaging; Metabolism, Inbor | 2001 |
Glutaric aciduria type I.
Topics: Child, Preschool; Female; Glutarates; Humans; Infant; Magnetic Resonance Imaging; Male; Metabolism, | 2001 |
Glutaric aciduria type I diagnosed after poliovirus immunization: magnetic resonance findings.
Topics: Diagnosis, Differential; Encephalitis; Female; Glutarates; Humans; Infant; Magnetic Resonance Imagin | 2002 |
Molecular heterogeneity of beta-ETF deficiency in glutaric aciduria type II.
Topics: Alleles; Blotting, Northern; Cell Line; Cloning, Molecular; DNA, Single-Stranded; Electron-Transferr | 1992 |
Human cDNA encoding ETF dehydrogenase (ETF:ubiquinone oxido-reductase), and mutations in glutaric acidemia type II.
Topics: Amino Acid Sequence; Animals; DNA; Electron-Transferring Flavoproteins; Fatty Acid Desaturases; Gene | 1992 |
Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II, and identification of glycine substitution for valine 157, producing an unstable mature protein in a patient.
Topics: Blotting, Northern; Electron-Transferring Flavoproteins; Flavoproteins; Genetic Testing; Genetic Var | 1992 |
Prenatal diagnosis and neonatal monitoring of a fetus with glutaric aciduria type II due to electron transfer flavoprotein (beta-subunit) deficiency.
Topics: Amniotic Fluid; Electron-Transferring Flavoproteins; Female; Flavoproteins; Glutarates; Humans; Infa | 1991 |
Octenylsuccinic aciduria in children fed protein-hydrolysate formulas containing modified cornstarch.
Topics: Child; Child, Preschool; Dietary Proteins; False Positive Reactions; Female; Food, Formulated; Gas C | 1991 |
Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II--and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable matur
Topics: Acidosis; Base Sequence; Blotting, Northern; Cell Line; Electron-Transferring Flavoproteins; Flavopr | 1991 |
Newly identified forms of electron transfer flavoprotein deficiency in two patients with glutaric aciduria type II.
Topics: Child, Preschool; Electron Transport; Electron-Transferring Flavoproteins; Fatty Acid Desaturases; F | 1991 |
Glutaric aciduria type II: autopsy study of a case with electron-transferring flavoprotein dehydrogenase deficiency.
Topics: Acidosis; Electron Transport; Electron-Transferring Flavoproteins; Fatty Acid Desaturases; Glutarate | 1990 |
Glutaric acidemia type II: heterogeneity of clinical and biochemical phenotypes.
Topics: Cell Line; Electron-Transferring Flavoproteins; Fatty Acid Desaturases; Female; Fibroblasts; Flavopr | 1990 |
Striatal degeneration in glutaric acidaemia type II.
Topics: Child, Preschool; Corpus Striatum; Electron-Transferring Flavoproteins; Female; Flavoproteins; Gluta | 1989 |
Recent progress in understanding glutaric acidemias.
Topics: Child, Preschool; Electron-Transferring Flavoproteins; Female; Flavoproteins; Glutarates; Humans; Me | 1987 |
Inherited defects of mitochondrial fatty acid oxidation.
Topics: Acyl-CoA Dehydrogenase; Carnitine O-Palmitoyltransferase; Fatty Acid Desaturases; Fatty Acids; Gluta | 1988 |
Postnatal and antenatal laboratory diagnosis of glutaric aciduria II in a South African family.
Topics: Female; Fetal Diseases; Glutarates; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Pregna | 1987 |
A case of glutaric aciduria type I with unique abnormalities in the cerebral CT findings.
Topics: Baclofen; Female; gamma-Aminobutyric Acid; Gas Chromatography-Mass Spectrometry; Glutarates; Glutary | 1987 |
Analysis of volatile free fatty acids in human urine by capillary column gas chromatography/mass spectrometry.
Topics: Acetates; Child; Fatty Acids, Volatile; Gas Chromatography-Mass Spectrometry; Glutarates; Hemiterpen | 1986 |