lactic acid has been researched along with Inborn Errors of Metabolism in 46 studies
Lactic Acid: A normal intermediate in the fermentation (oxidation, metabolism) of sugar. The concentrated form is used internally to prevent gastrointestinal fermentation. (From Stedman, 26th ed)
2-hydroxypropanoic acid : A 2-hydroxy monocarboxylic acid that is propanoic acid in which one of the alpha-hydrogens is replaced by a hydroxy group.
| Excerpt | Relevance | Reference |
|---|---|---|
| "A new patient with neonatal lactic acidosis due to pyruvate carboxylase deficiency is described." | 8.77 | [Neonatal lactic acidosis caused by severe pyruvate carboxylase deficiency]. ( Cortés Coto, MT; del Valle Martínez, J; García Aparicio, J; García Muñoz, MJ; Merinero Cortés, B; Pérez-Cerdá Silvestre, C; Sáez Pérez, E; Ugarte Pérez, M, 1988) |
| "A new patient with neonatal lactic acidosis due to pyruvate carboxylase deficiency is described." | 4.77 | [Neonatal lactic acidosis caused by severe pyruvate carboxylase deficiency]. ( Cortés Coto, MT; del Valle Martínez, J; García Aparicio, J; García Muñoz, MJ; Merinero Cortés, B; Pérez-Cerdá Silvestre, C; Sáez Pérez, E; Ugarte Pérez, M, 1988) |
| "Three unrelated, sporadic patients with muscle coenzyme Q10 (CoQ10) deficiency presented at 32, 29, and 6 years of age with proximal muscle weakness and elevated serum creatine kinase (CK) and lactate levels, but without myoglobinuria, ataxia, or seizures." | 3.73 | Coenzyme Q10 deficiency and isolated myopathy. ( DiMauro, S; Gempel, K; Horvath, R; Lochmüller, H; Müller-Höcker, J; Naini, A; Neuen-Jacob, E; Plöger, H; Pongratz, DE; Schneiderat, P; Schoser, BG, 2006) |
| "An infant with combined methylmalonic aciduria and homocystinuria (cblC/D defect) presented with significant VSD." | 3.71 | CblC/D defect combined with haemodynamically highly relevant VSD. ( Baumgartner, ER; Bosk, A; Fowler, B; Heinemann, MK; Sieverding, L; Tomaske, M; Trefz, FK, 2001) |
| " Patients with mitochondrial encephalopathy with lactic acidosis and stroke-like episodes demonstrated only minor changes in redox state and in the behavior of the mitochondrial respiratory chain." | 3.68 | The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia. ( Capaldi, R; Chow, W; Glerum, DM; Lightowlers, R; Petrova-Benedict, R; Robinson, BH, 1990) |
| " The spectra and retention times of abnormal peaks found on chromatography of urine from patients with methylmalonic aciduria, maple syrup urine disease, and lactic aciduria were recorded and compared with those obtained for group of pure organic acids." | 3.67 | Use of a diode array detector in investigation of neonatal organic aciduria. ( Allen, KR; Khan, R; Watson, D, 1985) |
| "L-carnitine treatment prevented this fall in plasma carnitine and resulted in greater increases in excretion of acylcarnitines." | 2.71 | L-carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: a pilot study. ( Chalmers, RA; Harrison, EL; Jones, MG; Jones, S; Lee, PJ; Leonard, JV, 2005) |
| "Nine patients with McArdle disease, one with the partial glycolytic defect phosphoglycerate mutase deficiency, and nine matched, healthy subjects performed the classic ischemic forearm protocol and an identical protocol without ischemia." | 2.70 | A nonischemic forearm exercise test for McArdle disease. ( Haller, RG; Jensen, TD; Kazemi-Esfarjani, P; Skomorowska, E; Vissing, J, 2002) |
| "The conditions included seizures, inflammatory changes, and proven metabolic disorders." | 1.33 | The significance of elevated CSF lactate. ( Chow, SL; Clayton, PT; Cleary, MA; Leonard, JV; Rooney, ZJ, 2005) |
| " Nine patients presented isolated GHD and four patients had combined pituitary hormone deficiencies; they were treated with hGH at a dosage of 0." | 1.32 | Physical repercussions of childhood-onset growth hormone (GH) deficiency and hGH treatment in adulthood. ( Casajús, JA; Ferrández Longás, A; Labarta, JI; Mayayo, E; Ulied, MA, 2003) |
| "Here, we report on cytochrome c oxidase deficiency in the liver but not in the skeletal muscle of a 5-month-old girl who presented hepatic failure in early infancy." | 1.29 | Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure. ( Cerrone, R; Chretien, D; Edery, P; Fabre, M; Gérard, B; Munnich, A; Rabier, D; Rambaud, C; Rötig, A; Saudubray, JM, 1994) |
| "Amniocytes with an established cytochrome c oxidase deficiency were also investigated." | 1.28 | Prenatal diagnosis of systemic disorders of the respiratory chain in cultured amniocytes and chorionic villus fibroblasts by studying the formation of lactate and pyruvate from glucose. ( Bakkeren, JA; Feller, N; Ruitenbeek, W; Ruiter, J; Sengers, RC; Trijbels, JM; Wanders, RJ; Wijburg, FA, 1992) |
| "The presentation and clinical course of cytochrome c oxidase deficiency are highly variable and the diagnosis of cytochrome c oxidase deficiency should be considered in all patients with lactic acidosis or subacute necrotizing encephalomyelopathy." | 1.28 | Variable presentation of cytochrome c oxidase deficiency. ( Cunniff, C; Keppler, K, 1992) |
| "Creatine excretion was measured in two patients with methylmalonic aciduria and two patients with 3-hydroxy-3-methylglutaric aciduria." | 1.28 | Creatine metabolism during metabolic perturbations in patients with organic acidurias. ( Chalmers, RA; Davies, SE; Iles, RA; Stacey, TE, 1990) |
| "A ten-month-old infant with pyruvate dehydrogenase deficiency received anaesthesia on two occasions, once for a laparotomy and once for a tracheostomy." | 1.27 | Anaesthesia and pyruvate dehydrogenase deficiency. ( Dierdorf, SF; McNiece, WL, 1983) |
| "Isolated pyruvate carboxylase deficiency was found to present in two different forms, one with lactic acidaemia and mental retardation, the other with lactic acidaemia, hyperammonaemia citrullinaemia and hyperlysinaemia." | 1.27 | Lactic acidaemia. ( Robinson, BH; Sherwood, WG, 1984) |
| "Isolated pyruvate carboxylase deficiency is reviewed in detail with a report of a recent case and a discussion of the biochemical consequences." | 1.27 | Pyruvate carboxylase deficiency. ( Alberti, KG; Bartlett, K; Dale, G; Ghneim, HK; Stirk, JH, 1984) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 13 (28.26) | 18.7374 |
| 1990's | 17 (36.96) | 18.2507 |
| 2000's | 12 (26.09) | 29.6817 |
| 2010's | 4 (8.70) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Zhang, Q | 1 |
| Yu, Z | 1 |
| Wang, X | 1 |
| Tian, J | 1 |
| Vissing, J | 2 |
| Akman, HO | 1 |
| Aasly, J | 1 |
| Kahler, SG | 1 |
| Bacino, CA | 1 |
| DiMauro, S | 2 |
| Haller, RG | 2 |
| Kiykim, E | 1 |
| Zeybek, CA | 1 |
| Zubarioglu, T | 1 |
| Cansever, S | 1 |
| Yalcinkaya, C | 1 |
| Soyucen, E | 1 |
| Aydin, A | 1 |
| Scholl-Bürgi, S | 1 |
| Haberlandt, E | 1 |
| Gotwald, T | 1 |
| Albrecht, U | 1 |
| Baumgartner Sigl, S | 1 |
| Rauchenzauner, M | 1 |
| Rostásy, K | 1 |
| Karall, D | 1 |
| Shigematsu, Y | 1 |
| Hata, I | 1 |
| Tajima, G | 1 |
| Kazemi-Esfarjani, P | 1 |
| Skomorowska, E | 1 |
| Jensen, TD | 1 |
| Casajús, JA | 1 |
| Ferrández Longás, A | 1 |
| Mayayo, E | 1 |
| Labarta, JI | 1 |
| Ulied, MA | 1 |
| Jan, W | 1 |
| Zimmerman, RA | 1 |
| Wang, ZJ | 1 |
| Berry, GT | 1 |
| Kaplan, PB | 1 |
| Kaye, EM | 1 |
| García, A | 1 |
| Barbas, C | 1 |
| Carragher, FM | 1 |
| Bonham, JR | 1 |
| Smith, JM | 1 |
| Lee, PJ | 1 |
| Harrison, EL | 1 |
| Jones, MG | 1 |
| Jones, S | 1 |
| Leonard, JV | 3 |
| Chalmers, RA | 3 |
| Chow, SL | 1 |
| Rooney, ZJ | 1 |
| Cleary, MA | 1 |
| Clayton, PT | 1 |
| Horvath, R | 1 |
| Schneiderat, P | 1 |
| Schoser, BG | 1 |
| Gempel, K | 1 |
| Neuen-Jacob, E | 1 |
| Plöger, H | 1 |
| Müller-Höcker, J | 1 |
| Pongratz, DE | 1 |
| Naini, A | 1 |
| Lochmüller, H | 1 |
| Morava, E | 1 |
| Hogeveen, M | 1 |
| De Vries, M | 1 |
| Ruitenbeek, W | 2 |
| de Boode, WP | 1 |
| Smeitink, J | 1 |
| Dierdorf, SF | 1 |
| McNiece, WL | 1 |
| Robinson, BH | 3 |
| Sherwood, WG | 1 |
| Bartlett, K | 1 |
| Ghneim, HK | 1 |
| Stirk, JH | 1 |
| Dale, G | 1 |
| Alberti, KG | 1 |
| Dunger, DB | 1 |
| Krieger, IE | 1 |
| Nigro, M | 1 |
| Sarnaik, A | 1 |
| Taqi, Q | 1 |
| Lehotay, DC | 1 |
| Clarke, JT | 1 |
| Arnold, LD | 1 |
| Wevers, RA | 1 |
| Engelke, U | 1 |
| Wendel, U | 1 |
| de Jong, JG | 1 |
| Gabreëls, FJ | 1 |
| Heerschap, A | 1 |
| Stern, HJ | 1 |
| Edery, P | 1 |
| Gérard, B | 1 |
| Chretien, D | 2 |
| Rötig, A | 2 |
| Cerrone, R | 1 |
| Rabier, D | 1 |
| Rambaud, C | 1 |
| Fabre, M | 1 |
| Saudubray, JM | 1 |
| Munnich, A | 2 |
| Hutchesson, A | 1 |
| Preece, MA | 1 |
| Gray, G | 1 |
| Green, A | 1 |
| Touati, G | 1 |
| Rigal, O | 1 |
| Lombès, A | 1 |
| Frachon, P | 1 |
| Giraud, M | 1 |
| Ogier de Baulny, H | 1 |
| Saijo, T | 1 |
| Kuroda, Y | 1 |
| Kaunzinger, A | 1 |
| Rechner, A | 1 |
| Beck, T | 1 |
| Mosandl, A | 1 |
| Sewell, AC | 1 |
| Böhles, H | 1 |
| Kugel, H | 1 |
| Heindel, W | 1 |
| Roth, B | 1 |
| Ernst, S | 1 |
| Lackner, K | 1 |
| Lu, FL | 1 |
| Wang, PJ | 1 |
| Hwu, WL | 1 |
| Tsou Yau, KI | 1 |
| Wang, TR | 1 |
| Petzer, JP | 1 |
| Bergh, JJ | 1 |
| Mienie, LJ | 1 |
| Castagnoli, N | 1 |
| Van der Schyf, CJ | 1 |
| Tomaske, M | 1 |
| Bosk, A | 1 |
| Heinemann, MK | 1 |
| Sieverding, L | 1 |
| Baumgartner, ER | 1 |
| Fowler, B | 1 |
| Trefz, FK | 1 |
| Wanders, RJ | 1 |
| Wijburg, FA | 1 |
| Ruiter, J | 1 |
| Trijbels, JM | 1 |
| Sengers, RC | 1 |
| Bakkeren, JA | 1 |
| Feller, N | 1 |
| Keppler, K | 1 |
| Cunniff, C | 1 |
| Rustin, P | 1 |
| Bonnefont, JP | 1 |
| Nuttin, C | 1 |
| Cormier, V | 1 |
| Vassault, A | 1 |
| Parvy, P | 1 |
| Bardet, J | 1 |
| Davies, SE | 1 |
| Iles, RA | 1 |
| Stacey, TE | 1 |
| Glerum, DM | 1 |
| Chow, W | 1 |
| Petrova-Benedict, R | 1 |
| Lightowlers, R | 1 |
| Capaldi, R | 1 |
| Mills, GA | 1 |
| Walker, V | 1 |
| Mellor, JM | 1 |
| Merinero Cortés, B | 1 |
| del Valle Martínez, J | 1 |
| Pérez-Cerdá Silvestre, C | 1 |
| García Muñoz, MJ | 1 |
| Cortés Coto, MT | 1 |
| García Aparicio, J | 1 |
| Sáez Pérez, E | 1 |
| Ugarte Pérez, M | 1 |
| Maltby, DA | 1 |
| Millington, DS | 1 |
| Greter, J | 1 |
| Jacobson, CE | 1 |
| Gregersen, N | 1 |
| Allen, KR | 1 |
| Khan, R | 1 |
| Watson, D | 1 |
| Kolodny, EH | 1 |
| Yatziv, S | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders[NCT02935283] | 56 participants (Anticipated) | Observational | 2016-08-31 | Recruiting | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
7 reviews available for lactic acid and Inborn Errors of Metabolism
| Article | Year |
|---|---|
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 |
Organic acidurias and related abnormalities.
Topics: Acids; Carnitine; Diet; Gas Chromatography-Mass Spectrometry; Humans; Infant, Newborn; Lactates; Lac | 1995 |
Lactic acidosis in paediatrics: clinical and laboratory evaluation.
Topics: Acidosis, Lactic; Adult; Child; Citric Acid Cycle; Female; Gluconeogenesis; Glycogen; Humans; Infant | 1994 |
Lacticacidemia.
Topics: Adenosine Triphosphatases; Amino Acid Sequence; Animals; Binding Sites; Carrier Proteins; Cytochrome | 1993 |
[Pyruvate decarboxylase deficiency].
Topics: Biomarkers; Diagnosis, Differential; Female; Humans; Lactic Acid; Male; Metabolism, Inborn Errors; M | 1998 |
[Neonatal lactic acidosis caused by severe pyruvate carboxylase deficiency].
Topics: Acidosis, Lactic; Humans; Infant; Infant, Newborn; Lactates; Lactic Acid; Male; Metabolism, Inborn E | 1988 |
The acyl-CoA dehydrogenation deficiencies. Recent advances in the enzymic characterization and understanding of the metabolic and pathophysiological disturbances in patients with acyl-CoA dehydrogenation deficiencies.
Topics: Acidosis; Acyl Coenzyme A; Acyl-CoA Dehydrogenase, Long-Chain; Ammonia; Carboxylic Acids; Chemical P | 1985 |
2 trials available for lactic acid and Inborn Errors of Metabolism
| Article | Year |
|---|---|
A nonischemic forearm exercise test for McArdle disease.
Topics: Adult; Ammonia; Exercise; Exercise Test; Female; Forearm; Glycogen Storage Disease Type V; Hand Stre | 2002 |
L-carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: a pilot study.
Topics: 3-Hydroxybutyric Acid; Acids; Acyl-CoA Dehydrogenase; Adolescent; Adult; Anaerobic Threshold; Blood | 2005 |
37 other studies available for lactic acid and Inborn Errors of Metabolism
| Article | Year |
|---|---|
Effects of inoculants and environmental temperature on fermentation quality and bacterial diversity of alfalfa silage.
Topics: Ammonia; Bacterial Load; Fermentation; Food Quality; Gene Silencing; Hydrogen-Ion Concentration; Lac | 2018 |
Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency.
Topics: Ergometry; Exercise Test; Exercise Tolerance; Genetic Diseases, X-Linked; Humans; Intellectual Disab | 2018 |
Inherited metabolic disorders in Turkish patients with autism spectrum disorders.
Topics: Adolescent; Adult; Amino Acids; Ammonia; Autism Spectrum Disorder; Blood Gas Analysis; Carnitine; Ch | 2016 |
Stroke-like episodes in propionic acidemia caused by central focal metabolic decompensation.
Topics: Amino Acids; Basal Ganglia; Cerebral Cortex; Child; Electroencephalography; Female; Functional Later | 2009 |
Useful second-tier tests in expanded newborn screening of isovaleric acidemia and methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Blood Specimen Collection; Carnitine; Case-Control | 2010 |
Physical repercussions of childhood-onset growth hormone (GH) deficiency and hGH treatment in adulthood.
Topics: Adult; Age of Onset; Body Composition; Drug Administration Schedule; Exercise Test; Female; Hand Str | 2003 |
MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Amino Acids, Branched-Chain; Aspartic Acid; Basal | 2003 |
Pitfalls in the measurement of some intermediary metabolites.
Topics: 3-Hydroxybutyric Acid; Artifacts; Biomarkers; Diagnostic Techniques and Procedures; Fatty Acids, Non | 2003 |
The significance of elevated CSF lactate.
Topics: Acidosis, Lactic; Biomarkers; Child; Diagnosis, Differential; Humans; Inflammation; Lactic Acid; Met | 2005 |
Coenzyme Q10 deficiency and isolated myopathy.
Topics: Adult; Coenzymes; Creatine Kinase; Delivery, Obstetric; Disease Progression; Electron Transport Comp | 2006 |
Normal serum alanine concentration differentiates transient neonatal lactic acidemia from an inborn error of energy metabolism.
Topics: Alanine; Diagnosis, Differential; DNA, Mitochondrial; Energy Metabolism; Humans; Infant, Newborn; La | 2006 |
Anaesthesia and pyruvate dehydrogenase deficiency.
Topics: Acidosis; Anesthesia; Anesthetics; Female; Humans; Infant; Lactates; Lactic Acid; Metabolism, Inborn | 1983 |
Lactic acidaemia.
Topics: Abnormalities, Multiple; Child; Humans; Lactates; Lactic Acid; Metabolism, Inborn Errors; Pyruvate C | 1984 |
Pyruvate carboxylase deficiency.
Topics: Carboxy-Lyases; Citrulline; Humans; Infant, Newborn; Lactates; Lactic Acid; Male; Metabolism, Inborn | 1984 |
Organic acids in urine of patients with congenital lactic acidoses: an aid to differential diagnosis.
Topics: Acidosis; Acids; Citric Acid Cycle; Cytochromes; Diagnosis, Differential; Gluconeogenesis; Humans; L | 1984 |
An evaluation of urine lactate for detection of inborn errors of metabolism.
Topics: Child; Creatinine; Humans; Lactates; Lactic Acid; Metabolism, Inborn Errors | 1984 |
Screening of high risk infants for metabolic disease in a metropolitan hospital.
Topics: Amino Acids; Ammonia; Carboxylic Acids; Humans; Infant, Newborn; Infant, Newborn, Diseases; Lactates | 1981 |
Use of donor milk in the treatment of metabolic disorders: glycolytic pathway defects.
Topics: Glycolysis; Humans; Infant; Lactates; Lactic Acid; Male; Metabolism, Inborn Errors; Milk Banks; Milk | 1995 |
Standardized method for high-resolution 1H-NMR of cerebrospinal fluid.
Topics: Adult; Amino Acids; Canavan Disease; Carbon-Carbon Ligases; Cerebrospinal Fluid; Child; Female; Gas | 1995 |
Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure.
Topics: Cytochrome-c Oxidase Deficiency; Female; Humans; Infant; Lactates; Lactic Acid; Liver; Liver Failure | 1994 |
Measurement of lactate in cerebrospinal fluid in investigation of inherited metabolic disease.
Topics: Adolescent; Child; Child, Preschool; Electron Transport; Humans; Infant; Lactic Acid; Metabolism, In | 1997 |
In vivo functional investigations of lactic acid in patients with respiratory chain disorders.
Topics: Adolescent; Adult; Age of Onset; Case-Control Studies; Child; Child, Preschool; Creatinine; Electron | 1997 |
Chiral compounds as indicators of inherited metabolic disease. Simultaneous stereodifferentiation of lactic-, 2-hydroxyglutaric- and glyceric acid by enantioselective cGC.
Topics: Animals; Child, Preschool; Dog Diseases; Dogs; Female; Gas Chromatography-Mass Spectrometry; Glutara | 1996 |
Proton MR spectroscopy in infants with cerebral energy deficiency due to hypoxia and metabolic disorders.
Topics: Aspartic Acid; Basal Ganglia; Brain; Brain Diseases, Metabolic; Child, Preschool; Follow-Up Studies; | 1998 |
Neonatal type of nonketotic hyperglycinemia.
Topics: Ammonia; Brain; Female; Glycine; Humans; Infant, Newborn; Lactic Acid; Magnetic Resonance Imaging; M | 1999 |
Metabolic defects caused by 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) and by HPTP (the tetrahydropyridinyl analog of haloperidol), in rats.
Topics: 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine; Animals; Antipsychotic Agents; Haloperidol; Lactic Aci | 2000 |
CblC/D defect combined with haemodynamically highly relevant VSD.
Topics: Female; Folic Acid; Heart Septal Defects, Ventricular; Homocysteine; Homocystinuria; Humans; Hydroxo | 2001 |
Prenatal diagnosis of systemic disorders of the respiratory chain in cultured amniocytes and chorionic villus fibroblasts by studying the formation of lactate and pyruvate from glucose.
Topics: Amnion; Cells, Cultured; Chorionic Villi; Cytochrome-c Oxidase Deficiency; Female; Fibroblasts; Gluc | 1992 |
Variable presentation of cytochrome c oxidase deficiency.
Topics: Cytochrome-c Oxidase Deficiency; Female; Humans; Infant, Newborn; Lactates; Lactic Acid; Male; Metab | 1992 |
Clinical aspects of mitochondrial disorders.
Topics: Child, Preschool; Coma; Diabetes Mellitus; DNA, Mitochondrial; Dwarfism; Female; Heart Diseases; Hum | 1992 |
Creatine metabolism during metabolic perturbations in patients with organic acidurias.
Topics: 3-Hydroxybutyric Acid; Carnitine; Child; Child, Preschool; Creatine; Creatinine; Female; Humans; Hyd | 1990 |
The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia.
Topics: Acidosis, Lactic; Brain Diseases; Cells, Cultured; Cytochrome-c Oxidase Deficiency; Fibroblasts; Hum | 1990 |
3-Methylisoxazol-5-one, an artefact from acetoacetic acid formed during urinary organic acid analysis.
Topics: Acetoacetates; Carboxylic Acids; Child, Preschool; False Positive Reactions; Humans; Isoxazoles; Lac | 1989 |
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 |
Urinary organic acids: isolation and quantification for routine metabolic screening.
Topics: Acetates; Carboxylic Acids; Cinnamates; Citrates; Citric Acid; Gas Chromatography-Mass Spectrometry; | 1987 |
Use of a diode array detector in investigation of neonatal organic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Carboxylic Acids; Chromatography, Ion Exchange; Electrochemist | 1985 |
Laboratory approaches for inherited neurometabolic diseases.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Galactosemias; Homocystinuria; Humans; Lactates; Lact | 1985 |