leucine and Inborn Errors of Metabolism

leucine has been researched along with Inborn Errors of Metabolism in 47 studies

Research

Studies (47)

Timeframe	Studies, this research(%)	All Research%
pre-1990	28 (59.57)	18.7374
1990's	9 (19.15)	18.2507
2000's	5 (10.64)	29.6817
2010's	3 (6.38)	24.3611
2020's	2 (4.26)	2.80

Authors

Authors	Studies
Eminoğlu, FT; Kahveci, F; Kendirli, T; Köse, E; Kraja, E; Okulu, E; Öncül, Ü	1
Attias, O; Bar-Joseph, G; Ben-Ari, J; Eisenstein, I; Eytan, D; Hadash, A; Halberthal, M; Magen, D; Mandel, H; Pollack, S; Tal, G; Zelikovic, I	1
Hirschey, MD; Hu, X; Huynh, FK; Johnson, JD; Lin, Z	1
Lund, AB; Lund, AM	1
Sass, JO	1
Balasubramanyam, A; Ellis, K; Jahoor, F; Reeds, PJ; Sekhar, RV; Sharma, MD; Shi, J	1
Berry, SA; Burton, BK; Edland, SD; Ensenauer, R; Grünert, S; Hahn, S; Huey, JC; Koch, HG; Marquardt, I; Matern, D; Rinaldo, P; Santer, R; Sass, JO; Vockley, J; Willard, JM	1
Asselta, R; Braidotti, P; Coggi, G; Duga, S; Maggioni, M; Malcovati, M; Pellegrini, C; Santagostino, E; Tenchini, ML	1
Arnold, GL; Barshop, B; Braverman, N; Burton, B; Cederbaum, S; Fiegenbaum, A; Garganta, C; Gibson, J; Goodman, SI; Harding, C; Kahler, S; Koeberl, DD; Kronn, D; Longo, N; Matern, D	1
Hagberg, B; Hjalmarson, O; Lindstedt, S; Ransnäs, L; Steen, G	1
Dechamps, M; Rigo, J; Senterre, J	1
Goodman, SI; Markey, SP	1
Bardet, J; Coudé, FX; Grimber, G; Parvy, P; Pham Dinh, D; Saudubray, JM	1
Duran, M; Kamerling, JP; Wadman, SK	1
Schreier, K	1
Poston, JM	1
Deufel, T; Duran, M; Endres, W; Gibson, KM; Hadorn, HB; Ibel, H; Kennaway, NG; Paetzke, I	1
Adam, BW; Chace, DH; Hillman, SL; Kahler, SG; Levy, HL; Millington, DS	1
Bodamer, OA; Leonard, JV	1
Schäfer, R	1
Baumgartner, ER; Pfenninger, J; Suormala, T; Wiesmann, UN	1
Casella, EB; Martins, FR; Miura, IK; Porta, G; Vieira, MA	1
De Meirleir, L; Desprechins, B; Erasmus, E; Gerlo, E; Gibson, KM; Jooste, S; Mienie, LJ; Wappner, RS	1
Berry, GT; Ciafre, M; Fukao, T; Gibson, J; Kondo, N; Mazur, A; Mitchell, GA; Palmieri, MJ	1
Blazer-Yost, B; Cohn, R; Segal, S; Yudkoff, M	1
Centerwall, WR; Chinnock, RF; Goodman, SI; Mace, JW	1
Barashnev, IuI; Vel'tishchev, IuE	1
Halliday, D; Leonard, JV; Thompson, GN; Walter, JH	1
Knopman, DS; Shih, VE; Tuchman, M	1
Doherty, FJ; Landon, M; Laszlo, L; Lennox, G; Lowe, J; Mayer, RJ	1
Bickel, H; Mathias, D	1
Levy, HL; MacCready, RA; Simmons, JR	1
Callaghan, P; Newman, CG; Wilson, BD; Young, L	1
Perrone, L	1
Thalhammer, O	2
Gompertz, D	1
Baerlocher, K; Curtius, HC; Völlmin, JA	1
Iivanainen, M; Palo, J; Savolainen, H	1
Chalmers, RA; Lawson, AM; Watts, RW	1
Burgess, EA; Butler, LJ; Levin, B; Oberholzer, VG; Palmer, T	1
Linneweh, F	1
Brady, N; Laplante, M; Lebel, E; Tran, N	1
Steuer, W	1
Cloup, M; Fournet, JP; Saudubray, JM	1
Eldjarn, L; Halvorsen, S; Stokke, O	1
Daniel, WL	1

Reviews

4 review(s) available for leucine and Inborn Errors of Metabolism

Article	Year
[Early detection of hereditary anomalies of metabolism in children (screening programs)]. Voprosy okhrany materinstva i detstva, 1975, Volume: 20, Issue:8 Topics: Age Factors; Cysteine; Galactosemias; Glucosephosphate Dehydrogenase Deficiency; Glutamate Dehydrogenase; Histidine Ammonia-Lyase; Humans; Hyperlipidemias; Infant, Newborn; Leucine; Mass Screening; Metabolism, Inborn Errors; Oxalates; Phenylketonurias; Pyruvate Kinase; Respiratory Distress Syndrome, Newborn; Time Factors; UTP-Hexose-1-Phosphate Uridylyltransferase	1975
Ubiquitin-protein conjugates: clinical and experimental findings. Revisiones sobre biologia celular : RBC, 1989, Volume: 20 Topics: Cell Compartmentation; Cysteine Proteinase Inhibitors; Humans; Intermediate Filaments; Leucine; Lysosomes; Metabolism, Inborn Errors; Organelles; Proteins; Ubiquitins	1989
[Early detection of congenital metabolic anomalies]. Klinische Padiatrie, 1973, Volume: 185, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Austria; Blood; Chromatography, Paper; Chromatography, Thin Layer; Economics; Fluorometry; Galactosemias; Humans; Infant, Newborn; Leucine; Mass Screening; Metabolism, Inborn Errors; Phenylketonurias; Umbilical Cord	1973
Inborn errors of organic acid metabolism. Clinics in endocrinology and metabolism, 1974, Volume: 3, Issue:1 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Biotin; Carboxylic Acids; Chromatography, Gas; Coenzyme A; Crotonates; Female; Gestational Age; Humans; Hydroxy Acids; Hydroxybutyrates; Infant; Infant, Newborn; Isomerases; Leucine; Male; Malonates; Metabolism, Inborn Errors; Pedigree; Pregnancy; Prenatal Diagnosis; Propionates; Pyrrolidonecarboxylic Acid; Valerates; Vitamin B 12	1974

Other Studies

43 other study(ies) available for leucine and Inborn Errors of Metabolism

Article	Year
Characteristics of continuous venovenous hemodiafiltration in the acute treatment of inherited metabolic disorders. Pediatric nephrology (Berlin, Germany), 2022, Volume: 37, Issue:6 Topics: Aged; Ammonia; Child; Continuous Renal Replacement Therapy; Hemodiafiltration; Humans; Hypotension; Infant; Infant, Newborn; Leucine; Maple Syrup Urine Disease; Metabolic Diseases; Metabolism, Inborn Errors; Renal Dialysis	2022
Acute hemodialysis therapy in neonates with inborn errors of metabolism. Pediatric nephrology (Berlin, Germany), 2022, Volume: 37, Issue:11 Topics: Ammonia; Child; Humans; Infant, Newborn; Leucine; Metabolism, Inborn Errors; Renal Dialysis; Retrospective Studies; Urea	2022
Loss of sirtuin 4 leads to elevated glucose- and leucine-stimulated insulin levels and accelerated age-induced insulin resistance in multiple murine genetic backgrounds. Journal of inherited metabolic disease, 2018, Volume: 41, Issue:1 Topics: Age Factors; Animals; Biomarkers; Blood Glucose; Female; Genetic Predisposition to Disease; In Vitro Techniques; Insulin; Insulin Resistance; Leucine; Lipid Metabolism; Lysine; Male; Metabolism, Inborn Errors; Mice, 129 Strain; Mice, Inbred C57BL; Mice, Knockout; Mitochondrial Proteins; Phenotype; Protein Processing, Post-Translational; Sirtuins; Up-Regulation	2018
[Isovaleric acidaemia--a rare and serious defect in the metabolism of leucine]. Ugeskrift for laeger, 2011, Apr-11, Volume: 173, Issue:15 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Humans; Infant; Infant, Newborn; Isovaleryl-CoA Dehydrogenase; Leucine; Metabolism, Inborn Errors; Neonatal Screening; Young Adult	2011
Disorders of the degradation of branched chain amino acids: what is new in clinics and laboratories? Journal of inherited metabolic disease, 2012, Volume: 35, Issue:1 Topics: Amino Acids, Branched-Chain; Animals; Germany; Humans; Isoleucine; Leucine; Metabolism, Inborn Errors; Mice; Societies, Medical; Valine	2012
Short- and long-term effects of growth hormone (GH) replacement on protein metabolism in GH-deficient adults. The Journal of clinical endocrinology and metabolism, 2003, Volume: 88, Issue:12 Topics: Adult; Aged; Body Composition; Case-Control Studies; Fasting; Female; Homeostasis; Human Growth Hormone; Humans; Leucine; Male; Metabolism, Inborn Errors; Middle Aged; Oxidation-Reduction; Time Factors	2003
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. American journal of human genetics, 2004, Volume: 75, Issue:6 Topics: Algorithms; DNA Primers; Genotype; Hemiterpenes; Humans; Infant, Newborn; Isovaleryl-CoA Dehydrogenase; Leucine; Mass Spectrometry; Metabolism, Inborn Errors; Mutation; Neonatal Screening; Oxidoreductases Acting on CH-CH Group Donors; Pentanoic Acids; Restriction Mapping	2004
Liver histology of an afibrinogenemic patient with the Bbeta-L353R mutation showing no evidence of hepatic endoplasmic reticulum storage disease (ERSD); comparative study in COS-1 cells of the intracellular processing of the Bbeta-L353R fibrinogen vs. the Journal of thrombosis and haemostasis : JTH, 2005, Volume: 3, Issue:4 Topics: Adolescent; Animals; Arginine; COS Cells; DNA, Complementary; Electrophoresis, Polyacrylamide Gel; Endoplasmic Reticulum; Fibrinogen; Genotype; Glycoside Hydrolases; Humans; Immunohistochemistry; Immunoprecipitation; Leucine; Liver; Liver Diseases; Male; Metabolism, Inborn Errors; Microscopy, Electron; Mutation; Mutation, Missense; Phenotype; Reverse Transcriptase Polymerase Chain Reaction; RNA; RNA, Messenger; Transfection	2005
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. Molecular genetics and metabolism, 2008, Volume: 93, Issue:4 Topics: Carbon-Carbon Ligases; Carnitine; Delphi Technique; Energy Intake; Humans; Infant, Newborn; Leucine; Metabolism, Inborn Errors; Mothers; Neonatal Screening	2008
3-Methylglutaconic aciduria in two infants. Clinica chimica acta; international journal of clinical chemistry, 1983, Oct-31, Volume: 134, Issue:1-2 Topics: Creatinine; Female; Fibroblasts; Glutarates; Hemiterpenes; Humans; Hydroxymethylglutaryl-CoA Synthase; Infant; Leucine; Leukocytes; Meglutol; Metabolism, Inborn Errors; Pentanoic Acids	1983
[Dietary treatment of leucinosis]. Revue medicale de Liege, 1984, May-15, Volume: 39, Issue:10 Topics: Amino Acids; Diseases in Twins; Female; Humans; Infant, Newborn; Leucine; Metabolism, Inborn Errors	1984
Diagnosis of organic acidemias by gas chromatography--mass spectrometry. Laboratory and research methods in biology and medicine, 1981, Volume: 6 Topics: Acid-Base Imbalance; Gas Chromatography-Mass Spectrometry; Humans; Isoleucine; Leucine; Lysine; Metabolism, Inborn Errors; Tryptophan; Valine	1981
Characterization of enzymatic deficiencies of branched chain amino-acid catabolism in human fibroblasts by genetic complementation. Biochemical and biophysical research communications, 1983, Jul-18, Volume: 114, Issue:1 Topics: Acetyl-CoA C-Acyltransferase; Amino Acid Metabolism, Inborn Errors; Carbon Radioisotopes; Cells, Cultured; Fibroblasts; Genetic Complementation Test; Humans; Isoleucine; Leucine; Metabolism, Inborn Errors; Mutation; Skin	1983
Organic acidurias: approach, results and clinical relevance. Ciba Foundation symposium, 1982, Volume: 87 Topics: Child; Child, Preschool; Crotonates; Female; Gas Chromatography-Mass Spectrometry; Glutarates; Humans; Infant; Keto Acids; Leucine; Ligases; Male; Metabolism, Inborn Errors; Oxidoreductases; Oxo-Acid-Lyases; Pregnancy; Prenatal Diagnosis; Valerates	1982
[Modern possibilities in the early diagnosis of congenital metabolic diseases]. Die Medizinische Welt, 1982, Apr-02, Volume: 33, Issue:13 Topics: Female; Humans; Hypercholesterolemia; Hyperlipoproteinemia Type IV; Hypoglycemia; Infant, Newborn; Leucine; Metabolism, Inborn Errors; Phenylketonurias; Pregnancy; Prenatal Diagnosis	1982
Cobalamin-dependent formation of leucine and beta-leucine by rat and human tissue. Changes in pernicious anemia. The Journal of biological chemistry, 1980, Nov-10, Volume: 255, Issue:21 Topics: Amino Acids, Branched-Chain; Anemia, Pernicious; Animals; Hair; Humans; Leucine; Leukocytes; Liver; Metabolism, Inborn Errors; Rats; Vitamin B 12	1980
Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria. European journal of pediatrics, 1993, Volume: 152, Issue:8 Topics: Acidosis, Lactic; Cardiomyopathy, Hypertrophic; Electron Transport Complex IV; Glutarates; Humans; Hydro-Lyases; Infant; Leucine; Male; Meglutol; Metabolism, Inborn Errors; Mitochondrial Myopathies; Respiration Disorders	1993
Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns' blood spots by tandem mass spectrometry. Clinical chemistry, 1996, Volume: 42, Issue:3 Topics: Blood Specimen Collection; Chromatography, High Pressure Liquid; Homocystinuria; Humans; Infant, Newborn; Isoleucine; Leucine; Mass Spectrometry; Metabolism, Inborn Errors; Methionine; Neonatal Screening; Paper; Sensitivity and Specificity	1996
Stable isotope studies in inborn errors of metabolism--implications and conclusions. European journal of pediatrics, 1997, Volume: 156 Suppl 1 Topics: Glucose; Humans; Isotope Labeling; Leucine; Metabolism, Inborn Errors; Oxidation-Reduction	1997
[Detection of human proteins in vivo!]. Fortschritte der Medizin, 1997, Oct-30, Volume: 115, Issue:30 Topics: Blood Proteins; Carbon Radioisotopes; Deuterium; Humans; Leucine; Metabolism, Inborn Errors; Phenylalanine	1997
Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure. European journal of pediatrics, 1998, Volume: 157, Issue:3 Topics: Brain; Carbon-Carbon Ligases; Disease Progression; Fatal Outcome; Humans; Infant; Leucine; Male; Metabolism, Inborn Errors; Respiratory Insufficiency	1998
[3-Hydroxy-3-methyl-glutaryl-CoA-lyase deficiency as coma etiology in the neonatal period: case report]. Arquivos de neuro-psiquiatria, 1998, Volume: 56, Issue:3A Topics: Coma; Humans; Infant, Newborn; Leucine; Male; Metabolism, Inborn Errors; Oxo-Acid-Lyases	1998
Variable clinical presentation in three patients with 3-methylglutaconyl-coenzyme A hydratase deficiency. Journal of inherited metabolic disease, 1998, Volume: 21, Issue:6 Topics: Adolescent; Brain; Developmental Disabilities; Female; Glutarates; Humans; Hydro-Lyases; Infant; Leucine; Magnetic Resonance Imaging; Male; Metabolism, Inborn Errors	1998
Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency. Journal of inherited metabolic disease, 2001, Volume: 24, Issue:5 Topics: Attention Deficit Disorder with Hyperactivity; Blood Glucose; Brain; Child; Coenzyme A-Transferases; Glucose; Humans; Hypoglycemia; Immunoblotting; Infant, Newborn; Infusions, Intravenous; Insulin; Ketone Bodies; Leucine; Metabolism, Inborn Errors; Tomography, X-Ray Computed	2001
On the clinical significance of the plasma alpha-amino-n-butyric acid:leucine ratio. The American journal of clinical nutrition, 1979, Volume: 32, Issue:2 Topics: Adult; Aging; Aminobutyrates; Child; Child, Preschool; Humans; Infant; Leucine; Liver Diseases; Metabolism, Inborn Errors	1979
The child with an unusual odor. A clinical resumé. Clinical pediatrics, 1976, Volume: 15, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Choline; Diabetes Mellitus, Type 1; Diabetic Ketoacidosis; Humans; Infant; Leucine; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Methionine; Odorants; Phenylketonurias; Tyrosine	1976
In vivo enzyme activity in inborn errors of metabolism. Metabolism: clinical and experimental, 1990, Volume: 39, Issue:8 Topics: Adult; Bicarbonates; Carbon Isotopes; Child; Child, Preschool; Deuterium; Female; Humans; Hydroxylation; Isotope Labeling; Leucine; Male; Malonates; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Methylmalonic Acid; Oxidation-Reduction; Phenylalanine; Phenylketonurias; Propionates; Radioisotope Dilution Technique; Reference Values; Tyrosine	1990
Episodic hyperammonemia in adult siblings with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. Archives of neurology, 1990, Volume: 47, Issue:10 Topics: Adult; Ammonia; Citrulline; Female; Fibroblasts; Glutamine; Humans; Leucine; Male; Metabolism, Inborn Errors; Ornithine; Phenylbutyrates; Recurrence; Syndrome; Urea	1990
Inter-laboratory quality control in neonatal screening for inborn errors of metabolism. European journal of pediatrics, 1985, Volume: 144, Issue:2 Topics: Diagnostic Tests, Routine; False Negative Reactions; Galactose; Germany, West; Humans; Infant, Newborn; Leucine; Metabolism, Inborn Errors; Methionine; National Health Programs; Phenylalanine; Quality Control	1985
Stability of amino acids and galactose in the newborn screening filter paper blood specimen. The Journal of pediatrics, 1985, Volume: 107, Issue:5 Topics: Amino Acids; Blood Specimen Collection; Fetal Blood; Filtration; Galactose; Humans; Infant, Newborn; Leucine; Mass Screening; Metabolism, Inborn Errors; Paper; Phenylalanine; Time Factors	1985
Neonatal death associated with isovalericacidaemia. Lancet (London, England), 1967, Aug-26, Volume: 2, Issue:7513 Topics: Acidosis; Bicarbonates; Chromatography; Chromatography, Gas; Coenzyme A; Electrolytes; Fatty Acids; Fatty Acids, Nonesterified; Glucose; Hemorrhage; Humans; Hypocalcemia; Infant Mortality; Infant, Newborn; Leucine; Male; Metabolism, Inborn Errors; Valerates	1967
[Diet therapy of some inborn errors of metabolism]. La Pediatria, 1974, Sep-30, Volume: 82, Issue:2 Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Celiac Disease; Child; Child, Preschool; Histidine; Humans; Hypoglycemia; Infant; Infant Nutritional Physiological Phenomena; Infant, Newborn; Lactose Intolerance; Leucine; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Methionine; Phenylketonurias; Proteins; Tyrosine	1974
Study of metabolic pathways in vivo using stable isotopes. Analytical chemistry, 1973, Volume: 46, Issue:7 Topics: Benzoates; Chromatography, Gas; Deuterium; Hippurates; Humans; Isotope Labeling; Leucine; Mass Spectrometry; Metabolism, Inborn Errors; Methods; Tyrosine	1973
Free amino acids and carbohydrates in the cerebrospinal fluid of 305 mentally retarded patients: a screening study. Journal of mental deficiency research, 1973, Volume: 17, Issue:2 Topics: Adolescent; Adult; Alanine; Amino Acids; Arginine; Carbohydrates; Child; Child, Preschool; Chromatography, Thin Layer; Cystine; Epilepsy; Female; Glutamates; Glutamine; Humans; Intellectual Disability; Intelligence Tests; Isoleucine; Leucine; Lysine; Male; Metabolism, Inborn Errors; Methionine; Middle Aged; Ornithine; Phenylalanine; Pneumoencephalography; Threonine; Valine	1973
Studies on the urinary acidic metabolites excreted by patients with beta-methylcrotonylglycinuria, propionic acidaemia and methylmalonic acidaemia, using gas-liquid chromatography and mass spectrometry. Clinica chimica acta; international journal of clinical chemistry, 1974, Volume: 52, Issue:1 Topics: Butyrates; Chromatography, Gas; Citrates; Computers; Crotonates; Glycine; Isoleucine; Leucine; Malonates; Mass Spectrometry; Metabolism, Inborn Errors; Oxaloacetates; Propionates; Valine	1974
Hyperammonaemia in 20 families. Biochemical and genetical survey, including investigations in 3 new families. Archives of disease in childhood, 1974, Volume: 49, Issue:6 Topics: Alanine; Ammonia; Arginine; Child, Preschool; Citrulline; Female; Genes, Dominant; Genetic Linkage; Glutamates; Glutamine; Glycine; Humans; Leucine; Liver; Lysine; Male; Metabolism, Inborn Errors; Ornithine; Ornithine Carbamoyltransferase; Sex Chromosomes	1974
[Isotope use in the study of hereditary metabolic diseases]. Monatsschrift fur Kinderheilkunde, 1970, Volume: 118, Issue:6 Topics: Animals; Autoradiography; Blood Glucose; Brain Chemistry; Carbon Isotopes; Chromatography, Paper; Deficiency Diseases; Feces; Galactose; Glucokinase; Glucose; Glycosuria; Humans; Infant, Newborn; Infant, Newborn, Diseases; Leucine; Malabsorption Syndromes; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Radioisotope Dilution Technique; Radioisotopes; Rats; Tritium	1970
[Demands on screening tests in inborn anomalies of metabolism]. Wiener klinische Wochenschrift, 1970, Oct-18, Volume: 82, Issue:42 Topics: Bacillus subtilis; Chromatography; Chromatography, Paper; Culture Media; Galactose; Histidine; Humans; Infant, Newborn; Leucine; Mass Screening; Metabolism, Inborn Errors; Methionine; Phenylalanine; Tyrosine	1970
Oxidation of DL-3-phenylalanine-1- 14 C, DL-leucine-1- 14 C, and D-glucose-1- 14 C-6-phosphate to 14 CO 2 in human placenta. Journal of nuclear medicine : official publication, Society of Nuclear Medicine, 1972, Volume: 13, Issue:1 Topics: Carbon Dioxide; Carbon Isotopes; Glucosephosphates; Humans; In Vitro Techniques; Leucine; Metabolism, Inborn Errors; Methods; Oxidation-Reduction; Phenylalanine; Placenta	1972
[Early diagnosis of congenital metabolic diseases]. Minerva medica, 1971, Nov-03, Volume: 62, Issue:83 Topics: Diet Therapy; Galactosemias; Histidine; Homocystinuria; Humans; Hyperglycemia; Infant, Newborn; Leucine; Lipoproteins; Lysine; Metabolism, Inborn Errors; Phenylketonurias; Time Factors; Valine	1971
[Value of peritoneal dialysis in the emergency treatment of metabolic diseases of constitutional origin revealed in the neonatal period]. Annales de medecine interne, 1971, Volume: 122, Issue:12 Topics: Acute Disease; Amino Acid Metabolism, Inborn Errors; Blood Proteins; Diet Therapy; Female; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Infant, Newborn, Diseases; Isoleucine; Leucine; Male; Malonates; Metabolism, Inborn Errors; Neurologic Manifestations; Peritoneal Dialysis; Prognosis; Respiration, Artificial	1971
Abnormal patterns of urine and serum amino acids in methylmalonic acidemia. Acta paediatrica Scandinavica, 1970, Volume: 59, Issue:1 Topics: Age Factors; Amino Acids; Body Weight; Chromatography, Paper; Diet Therapy; Electrophoresis; Female; Glycine; Humans; Infant; Infant, Newborn; Leucine; Malonates; Metabolism, Inborn Errors; Time Factors	1970
A genetic and biochemical investigation of primary microcephaly. American journal of mental deficiency, 1971, Volume: 75, Issue:6 Topics: Adult; Blood Proteins; Chromosome Aberrations; Chromosomes, Human, 1-3; Chromosomes, Human, 16-18; Female; Humans; Leucine; Lysine; Male; Metabolism, Inborn Errors; Microcephaly; Pregnancy; Proteins	1971