alanine has been researched along with Amino Acid Metabolism Disorders, Inborn in 61 studies
Alanine: A non-essential amino acid that occurs in high levels in its free state in plasma. It is produced from pyruvate by transamination. It is involved in sugar and acid metabolism, increases IMMUNITY, and provides energy for muscle tissue, BRAIN, and the CENTRAL NERVOUS SYSTEM.
alanine : An alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome is caused by mutations in the SLC25A15 (ORNT1) gene encoding the mitochondrial ornithine transporter, but the mechanism of pathogenesis of the encephalopathy, spastic paraparesis and hepatopathy remains undetermined." | 7.72 | Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family. ( Abu-Libdeh, B; Gutman, A; Kanazawa, N; Korman, SH; Tsujino, S, 2004) |
| "Impairment of urea cycle function in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome is presumably caused, in some patients, by deficient transport of ornithine from cytoplasm into mitochondria." | 7.67 | Ornithine loading did not prevent induced hyperammonemia in a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. ( Clow, CL; Mackenzie, S; Scriver, CR; Simell, O, 1985) |
| "Hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome is caused by mutations in the SLC25A15 (ORNT1) gene encoding the mitochondrial ornithine transporter, but the mechanism of pathogenesis of the encephalopathy, spastic paraparesis and hepatopathy remains undetermined." | 3.72 | Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family. ( Abu-Libdeh, B; Gutman, A; Kanazawa, N; Korman, SH; Tsujino, S, 2004) |
| "Impairment of urea cycle function in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome is presumably caused, in some patients, by deficient transport of ornithine from cytoplasm into mitochondria." | 3.67 | Ornithine loading did not prevent induced hyperammonemia in a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. ( Clow, CL; Mackenzie, S; Scriver, CR; Simell, O, 1985) |
| "A case of gyrate atrophy of the choroid and retina associated with hyperornithinemia has been subjected to extensive clinical and biochemical investigation." | 3.65 | Gyrate atrophy of the choroid and retina: clinical, ophthalmologic, and biochemical considerations. ( Marliss, EB; McCulloch, C, 1975) |
| " In Greek double heterozygotes for beta-thalassemia and the hereditary persistence of fetal hemoglobin, fetal hemoglobin is increased above the level of hemoglobin F in simple heterozygotes and gamma-chains with glycine in position 136 become apparent." | 3.65 | Nature of fetal hemoglobin in the Greek type of hereditary persistence of fetal hemoglobin with and without concurrent beta-thalassemia. ( Apell, G; Bouver, N; Huisman, TH; Schroeder, WA; Shelton, JB; Shelton, JR; Stamatoyannopoulos, G, 1970) |
| "Propionic acidemia is an inborn error of metabolism caused by a deficiency in the mitochondrial enzyme propionyl-CoA carboxylase that converts the propionyl CoA to methyl malonyl CoA." | 1.72 | Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology. ( Arrieta, F; Belanger-Quintana, A; Del Valle, M; Fernandez-Felix, BM; Garcia, F; Martinez-Pardo, M; Ruiz-Sala, P; Stanescu, S, 2022) |
| " In addition a dose-response effect of alanine was observed." | 1.27 | Alanine decreases the protein requirements of infants with inborn errors of amino acid metabolism. ( Algert, S; Kelts, DG; Nyhan, WL; Prodanos, C; Wolff, JA, 1985) |
| "Orotic aciduria is a reliable indicator of the function of the urea cycle in lysinuric protein intolerance and facilitates monitoring of the treatment of this disease." | 1.26 | Orotic aciduria in lysinuric protein intolerance: dependence on the urea cycle intermediates. ( Rajantie, J, 1981) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 51 (83.61) | 18.7374 |
| 1990's | 3 (4.92) | 18.2507 |
| 2000's | 3 (4.92) | 29.6817 |
| 2010's | 3 (4.92) | 24.3611 |
| 2020's | 1 (1.64) | 2.80 |
| Authors | Studies |
|---|---|
| Stanescu, S | 1 |
| Belanger-Quintana, A | 1 |
| Fernandez-Felix, BM | 1 |
| Ruiz-Sala, P | 1 |
| Del Valle, M | 1 |
| Garcia, F | 1 |
| Arrieta, F | 1 |
| Martinez-Pardo, M | 1 |
| Majid, H | 1 |
| Jafri, L | 1 |
| Khan, AH | 1 |
| Ali, ZZ | 1 |
| Jamil, A | 1 |
| Yusufzai, N | 1 |
| Fatimah, M | 1 |
| Afroze, B | 1 |
| Esaki, K | 1 |
| Sayano, T | 1 |
| Sonoda, C | 1 |
| Akagi, T | 1 |
| Suzuki, T | 1 |
| Ogawa, T | 1 |
| Okamoto, M | 1 |
| Yoshikawa, T | 1 |
| Hirabayashi, Y | 1 |
| Furuya, S | 1 |
| Srivastava, D | 1 |
| Singh, RK | 1 |
| Moxley, MA | 1 |
| Henzl, MT | 1 |
| Becker, DF | 1 |
| Tanner, JJ | 1 |
| ZETTERSTROEM, R | 1 |
| DINGMAN, HF | 1 |
| WRIGHT, SW | 1 |
| STAMBAUGH, R | 1 |
| DAVIDSON, DT | 1 |
| Korman, SH | 1 |
| Kanazawa, N | 1 |
| Abu-Libdeh, B | 1 |
| Gutman, A | 1 |
| Tsujino, S | 1 |
| Lee, NC | 1 |
| Chien, YH | 1 |
| Kobayashi, K | 1 |
| Saheki, T | 1 |
| Chen, HL | 1 |
| Chiu, PC | 1 |
| Ni, YH | 1 |
| Chang, MH | 1 |
| Hwu, WL | 1 |
| Christensen, M | 1 |
| Duno, M | 1 |
| Lund, AM | 1 |
| Skovby, F | 1 |
| Christensen, E | 1 |
| Shih, VE | 2 |
| Efron, ML | 1 |
| Mechanic, GL | 1 |
| de Céspedes, C | 1 |
| Santisteban, I | 1 |
| Ortiz, D | 1 |
| Rojas, E | 1 |
| Rodríguez, J | 1 |
| Nanne, C | 1 |
| Orlich, J | 1 |
| Coude, FX | 1 |
| Coude, M | 1 |
| Grimber, G | 1 |
| Pelet, A | 1 |
| Charpentier, C | 1 |
| Evered, DF | 1 |
| Congdon, PJ | 1 |
| Haigh, D | 1 |
| Smith, R | 2 |
| Green, A | 2 |
| Pollitt, RJ | 3 |
| Rajantie, J | 2 |
| Gibson, KM | 1 |
| Lee, CF | 1 |
| Bennett, MJ | 1 |
| Holmes, B | 1 |
| Nyhan, WL | 3 |
| Maestri, NE | 1 |
| Lord, C | 1 |
| Glynn, M | 1 |
| Bale, A | 1 |
| Brusilow, SW | 3 |
| Batshaw, ML | 1 |
| Greco, GM | 1 |
| Magli, A | 1 |
| Young, JD | 1 |
| Tucker, EM | 1 |
| Ellory, JC | 1 |
| Oyanagi, K | 1 |
| Sogawa, H | 1 |
| Minami, R | 1 |
| Nakao, T | 1 |
| Chiba, T | 1 |
| Simell, O | 3 |
| Perheentupa, J | 1 |
| Rapola, J | 1 |
| Visakorpi, JK | 1 |
| Eskelin, LE | 1 |
| Chesney, RW | 1 |
| Scriver, CR | 2 |
| Mohyuddin, F | 1 |
| McCulloch, C | 1 |
| Marliss, EB | 1 |
| Taylor, RG | 1 |
| Levy, HL | 2 |
| McInnes, RR | 1 |
| Sipilä, I | 1 |
| Valle, DL | 1 |
| Gray, RG | 1 |
| Webley, J | 1 |
| Carpenter, TO | 1 |
| Holtrop, ME | 1 |
| Anast, CS | 1 |
| Kelts, DG | 2 |
| Ney, D | 1 |
| Bay, C | 1 |
| Saudubray, JM | 1 |
| Wolff, JA | 1 |
| Algert, S | 1 |
| Prodanos, C | 1 |
| Mackenzie, S | 1 |
| Clow, CL | 1 |
| Winther, A | 1 |
| Bundgaard, L | 1 |
| Hillman, RE | 1 |
| Rosenberg, LE | 1 |
| Bakker, HD | 1 |
| de Bree, PK | 1 |
| van Sprang, FJ | 1 |
| Wadman, SK | 1 |
| François, J | 1 |
| Frimpter, GW | 1 |
| Blake, RL | 1 |
| Grillo, RV | 1 |
| Russell, ES | 1 |
| Bickel, H | 1 |
| Rüter, E | 1 |
| Nützenadel, W | 1 |
| Boisse, J | 1 |
| Niemeyer, G | 1 |
| Marquardt, JL | 1 |
| Sietti, C | 1 |
| Gruemer, HD | 1 |
| Grannis, GF | 1 |
| Hetland, LB | 1 |
| Costantini, ML | 1 |
| Tanaka, K | 1 |
| Miller, EM | 1 |
| Isselbacher, KJ | 1 |
| Goulon, M | 1 |
| Escourolle, R | 1 |
| Grosbuis, S | 1 |
| Caldera, R | 1 |
| Nouailhat, F | 1 |
| Barois, A | 1 |
| Podos, SM | 1 |
| Huisman, TH | 1 |
| Schroeder, WA | 1 |
| Stamatoyannopoulos, G | 1 |
| Bouver, N | 1 |
| Shelton, JR | 1 |
| Shelton, JB | 1 |
| Apell, G | 1 |
| Kraffczyk, F | 1 |
| Helger, R | 1 |
| Lang, H | 1 |
| Stimmler, L | 1 |
| Jensen, N | 1 |
| Toseland, P | 1 |
| Yoshida, T | 1 |
| Tada, K | 1 |
| Arakawa, T | 1 |
| Malmquist, J | 1 |
| Jagenburg, R | 1 |
| Lindstedt, G | 1 |
| Vidailhet, M | 1 |
| Levin, B | 1 |
| Dautrevaux, M | 1 |
| Paysant, P | 1 |
| Gelot, S | 1 |
| Badonnel, Y | 1 |
| Pierson, M | 1 |
| Neimann, N | 1 |
| Guibaud, P | 1 |
| Gusev, EI | 1 |
| Berge, T | 1 |
| Borgfors, N | 1 |
| Brun, A | 1 |
| von Studnitz, W | 1 |
| Maskaleris, ML | 1 |
| Gross, S | 1 |
| Milhorat, AT | 1 |
| Hyánek, J | 1 |
| Bremer, HJ | 1 |
| Slavik, M | 1 |
8 reviews available for alanine and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Advances in amino acid metabolism in mammals.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acid Oxidoreductases; Amino Acids; Animals; Bio | 1981 |
[Eye manifestations of amino acid disorders].
Topics: Alanine; Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Child; Cystinosis; Cystinuria | 1978 |
Histidase and histidinemia. Clinical and molecular considerations.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Animals; Histidine; Histidine Am | 1991 |
Advantages of supplementary alanine in infants with genetic defects of amino acid metabolism.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Dietary Proteins; Food, Fortified; Humans; Infant; In | 1986 |
Ocular manifestations in aminoacidopathies.
Topics: Adult; Alanine; Albinism; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cystinosis; | 1972 |
Aminoacidurias due to inherited disorders of metabolism. 2.
Topics: Acidosis; Alanine; Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Carbamates; Citrulline; | 1973 |
Amino acid intoxication.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Benzyl Compounds; Biological Tr | 1971 |
[New etiologic approach to periodic ketoacidosis in children].
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Butyrates; Carbohydrate Metabolism, Inborn Errors; Ch | 1971 |
53 other studies available for alanine and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Glutamine; Humans; Hyperammonem | 2022 |
Diagnostic dilemma of patients with methylmalonic aciduria: Experience from a tertiary care centre in Pakistan.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Citrates; Cross-Sectional Studies; | 2018 |
L-Serine Deficiency Elicits Intracellular Accumulation of Cytotoxic Deoxysphingolipids and Lipid Body Formation.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Animals; Brain; Cells, Cultured; Female; Gene Knockou | 2015 |
The three-dimensional structural basis of type II hyperprolinemia.
Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acid S | 2012 |
TYROSINOSIS.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Blood Chemical Analysis; Child; Genetics, Medical; Gl | 1963 |
A MULTIVARIATE ANALYSIS OF AMINO-ACID EXCRETIONS.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Biomedical Research; Child; Chromatograp | 1964 |
EVALUATION OF THE AMINO ACID EXCRETION PATTERN OF MENTAL RETARDATES AS A SCREENING TECHNIQUE FOR INBORN ERRORS OF METABOLISM.
Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Child; Chromatography; Creatine; Creatini | 1964 |
Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family.
Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; Arab | 2004 |
Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Calcium-Binding Proteins; Carnitine; Cholestasis, Int | 2006 |
Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase.
Topics: Adenine; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acid Substitution; Child; DNA Mutation | 2007 |
Rapid short-column chromatography of amino acids. A method for blood and urine specimens in the diagnosis and treatment of metabolic disease.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Aminobutyrates; Autoanalysis; Buffers; C | 1967 |
[Patterns of urinary aminoacid excretion in exceptional children and patients with mental disorders in Costa Rica].
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Aminoisobutyric Acids; Child; Costa Rica | 1983 |
Potentiation by piridoxilate of the synthesis of hippurate from benzoate in isolated rat hepatocytes. An approach to the determination of new pathways of nitrogen excretion in inborn errors of urea synthesis.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Animals; Benzoates; Cells, Cultured; Dose-Response Re | 1984 |
Hypermethioninaemia and 3-hydroxyisobutyric aciduria in an apparently healthy baby.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Aminoisobutyric Acids; Humans; Hydroxybutyrates; Infa | 1981 |
Orotic aciduria in lysinuric protein intolerance: dependence on the urea cycle intermediates.
Topics: Adolescent; Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Carbamyl Phospha | 1981 |
Combined malonic, methylmalonic and ethylmalonic acid semialdehyde dehydrogenase deficiencies: an inborn error of beta-alanine, L-valine and L-alloisoleucine metabolism?
Topics: Alanine; Aldehyde Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Child; Fibroblasts; Humans; | 1993 |
The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency.
Topics: Adult; Aged; Alanine; Amino Acid Metabolism, Inborn Errors; Female; Glutamine; Heterozygote; Humans; | 1998 |
Arginine therapy of argininosuccinase deficiency.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Acid; Argininosuccinic Aci | 1979 |
Amino acid transport properties of erythrocytes from normal newborn lambs and lambs with an inherited defect in amino acid transport.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Animals, Newborn; Arginase; Arg | 1978 |
The mechanism of hyperammonemia in congenital lysinuria.
Topics: Adolescent; Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Female; Humans; | 1979 |
Lysinuric protein intolerance.
Topics: Adolescent; Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Bi | 1975 |
Localization of the membrane defect in transepithelial transport of taurine by parallel studies in vivo and in vitro in hypertaurinuric mice.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Animals; Binding Sites; Cell Membrane Permeability; K | 1976 |
Gyrate atrophy of the choroid and retina: clinical, ophthalmologic, and biochemical considerations.
Topics: Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Arginine; Atrophy; Cataract; Choroid; Histidin | 1975 |
Waste nitrogen excretion via amino acid acylation: benzoate and phenylacetate in lysinuric protein intolerance.
Topics: Acylation; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Benzoates; Benzoic A | 1986 |
Methylmalonic semialdehyde dehydrogenase deficiency: demonstration of defective valine and beta-alanine metabolism and reduced malonic semialdehyde dehydrogenase activity in cultured fibroblasts.
Topics: Alanine; Aldehyde Oxidoreductases; Amino Acid Metabolism, Inborn Errors; beta-Alanine; Carbon Radioi | 1987 |
Lysinuric protein intolerance presenting as childhood osteoporosis. Clinical and skeletal response to citrulline therapy.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Arginine; Bone Development; Child, Preschool; Citrull | 1985 |
Excessive excretion of beta-alanine and of 3-hydroxypropionic, R- and S-3-aminoisobutyric, R- and S-3-hydroxyisobutyric and S-2-(hydroxymethyl)butyric acids probably due to a defect in the metabolism of the corresponding malonic semialdehydes.
Topics: Alanine; Aldehyde Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Aminoisobutyric Acids; beta | 1985 |
Studies on requirements for amino acids in infants with disorders of amino acid metabolism. I. Effect of alanine.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Dietary Proteins; Energy Intake; Female; | 1985 |
Alanine decreases the protein requirements of infants with inborn errors of amino acid metabolism.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Body Weight; Dietary Proteins; Female; H | 1985 |
Ornithine loading did not prevent induced hyperammonemia in a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Child; Citrulline; Cytoplasm; H | 1985 |
Genetic causes of mental subnormality.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Aneuploidy; Chromosome Aberrations; Chromosome Disord | 1973 |
Argininosuccinic aciduria in hereditary hair diseases.
Topics: Adolescent; Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Prescho | 1968 |
Amino acid transport by isolated mammalian renal tubules. II. Transport systems for L-proline.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Animals; Biological Transport, Active; Carbon Isotope | 1969 |
Fructose-1,6-diphosphatase deficiency: another enzyme defect which can present itself with the clinical features of "tyrosinosis".
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Carbohydrate Metabolism, Inborn Errors; | 1974 |
Increased taurine excretion in hereditary hyperprolinemia of the mouse.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Animals; Chromatography, Thin Layer; Glycine; Mice; M | 1974 |
[Early detection of hereditary enzyme defects of amino acid metabolism by means of microbiological inhibitor tests and thin layer chromatography].
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Bacillus subtilis; Biological Assay; Chromatography, | 1969 |
Retinal function in an unique syndrome of optic atrophy, juvenile diabetes mellitus, diabetes insipidus, neurosensory hearing loss, autonomic dysfunction, and hyperalanineuria.
Topics: Adaptation, Ocular; Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Diabetes Insipidus; Diabet | 1972 |
[Paper chromatography in the detection of aminoacidopathies].
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography, Paper; Glycine; Histidin | 1971 |
Amino acid transport and mental retardation.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Benzyl Compounds; Biological Tr | 1971 |
Hypoglycin A: a specific inhibitor of isovaleryl CoA dehydrogenase.
Topics: Acidosis; Alanine; Amino Acid Metabolism, Inborn Errors; Animals; Butyrates; Caproates; Carbon Dioxi | 1971 |
[Endogenous pellagra without hyperaminoaciduria].
Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Arginine; Chromatography, Paper; Diagnosi | 1969 |
Hyperpyruvicemia with hyper-alpha-alaninemia. Report of a case with neuro-ophthalmologic abnormalities.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Cerebellar Ataxia; Child; Eye Manifestations; Humans; | 1970 |
Nature of fetal hemoglobin in the Greek type of hereditary persistence of fetal hemoglobin with and without concurrent beta-thalassemia.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Chromatography, Paper; Fetal Hemoglobin; Glycine; Hem | 1970 |
Two-dimensional thin-layer chromatography on two-layer plates of amino acids.
Topics: Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Cellulose; Chromatograp | 1970 |
Alaninuria, associated with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus in two sisters.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Birth Weight; Child, Preschool; Dental Enamel Hypopla | 1970 |
Abnormally high levels of lactate and pyruvate in cerebrospinal fluid of hyperalaninemia with hyperpyruvicemia.
Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Child; Female; Humans; Lactates; Male; Me | 1970 |
Familial protein intolerance. Possible nature of enzyme defect.
Topics: Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Atrophy; Biological Tran | 1971 |
[Citrullinemia].
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Ammonia; Autopsy; Chromatography; Citrulline; Humans; | 1971 |
[Intermittent ataxia with hyperpyruvicemia and hyperalaninuria (pyruvate decarboxylase deficiency)].
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Ataxia; Carboxy-Lyases; Child; Humans; Pyruvates | 1971 |
[Hyperaminoaciduria in children suffering from progressive muscular dystrophy].
Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Arginine; Aspartic Acid; Child; Child, Pr | 1967 |
Encephalopathy in combination with a new pattern of aminoaciduria.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Brain; Brain Diseases; Central Nervous System; Chroma | 1969 |
Urinary amino acid and peptide excretion patterns in patients with muscular dystrophy (Duchenne). A preliminary study with the autoanalyzer.
Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Aspartic Acid; Autoanalysis; Child; Child | 1969 |
'Homocystinuria' and urinary excretion of beta-amino acids in patients treated with 6-azauridine.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Autoanalysis; Cellulose; Chromatography; | 1969 |