leucine and Syndrome

leucine has been researched along with Syndrome in 32 studies

Research

Studies (32)

Timeframe	Studies, this research(%)	All Research%
pre-1990	9 (28.13)	18.7374
1990's	5 (15.63)	18.2507
2000's	10 (31.25)	29.6817
2010's	7 (21.88)	24.3611
2020's	1 (3.13)	2.80

Authors

Authors	Studies
Bahrami, K; Järvinen, J; Rautio, J; Srisongkram, T; Timonen, J; Weerapreeyakul, N	1
Abudu, H; Ahemaiti, A; Aximujiang, K; Wu, G; Yunusi, K; Zhang, J	1
Calado, RT; Clé, DV	1
Berner, R; Brenner, S; Canna, SW; Chen, X; Cheng, S; Czabotar, PE; De Nardo, D; Hedrich, CM; Hofmann, SR; Lehmberg, K; Lu, B; Masters, SL; Moghaddas, F; Schützle, H; Wicks, IP; Winkler, S; Zeng, H; Zeng, P; Zhang, L; Zhang, Y; Zhao, Y	1
Blouin, JL; Gerster, K; Guipponi, M; Lang-Muritano, M; Santoni, F; Schwitzgebel, VM; Stekelenburg, C	1
Chafai El Alaoui, S; Cherkaoui Jaouad, I; El Alloussi, M; Laarabi, FZ; Lyahyai, J; Sefiani, A	1
Bönnemann, C; Brockmann, K; Gärtner, J; Huebner, A; Kind, B; Koehler, K; Krumbholz, M	1
Ai, M; Bartels, CF; Chung, BD; Freudenberg, J; Hanisch, FG; Höning, S; Kayserili, H; Kubisch, C; Netzer, C; Nürnberg, G; Nürnberg, P; Ramirez, A; Uyguner, O; Uzümcü, A; Warman, ML; Wollnik, B	1
Dagur, PK; Gastinger, MJ; Panicker, LM; Simonds, WF; Zhang, JH	1
Abdel-Hadi, D; Ahmad, N; Al-Haggar, M; Bujnicki, JM; Hamed, S; Kozlowski, L; Madej-Pilarczyk, A; Puzianowska-Kuznicka, M; Shams, A; Yahia, S	1
SIEGAL, S	1
Murata, K; Ohie, T; Taketani, T; Toriumi, Y; Uchiyama, A; Yamaguchi, S	1
Imamura, A; Matsuo, N; Morita, H; Omoya, K; Takahashi, Y; Tatebayashi, K; Tsujino, S	1
Kaname, T; Naritomi, K; Okamoto, N; Yanagi, K	1
Cho, HJ; Ki, CS; Sung, DH	1
Dressler, P; Hartmann, J; Meyer-Marcotty, P; Stellzig-Eisenhauer, A; Weisschuh, N	1
Nicklas, WJ	1
Brown, TR; Kaufman, M; Pinsky, L; Punnett, HH; Shkolny, DL; Trifiro, MA	1
Egawa, K; Haruta, T; Imamura, T; Ishibashi, O; Itazu, T; Iwanishi, M; Kobayashi, M; Naitou, K; Sasaoka, T; Takata, Y	1
Adams, M; Cavaillès, V; Chatterjee, VK; Collingwood, TN; Fletterick, RJ; Kalkhoven, E; Lindstedt, G; Matthews, C; Nystrom, E; Parker, MG; Rajanayagam, O; Stenlof, K; Tisell, L; Wagner, R	1
Ferry, RJ; Grimberg, A; Kelly, A; Koo-McCoy, S; Ng, D; Stanley, CA; Thornton, PS	1
Aral, B; Benelli, C; De Lonlay, P; Dionisi-Vici, C; Fouque, F; Ganguly, A; Heinrichs, C; Kamoun, P; Rabier, D; Robert, JJ; Saudubray, JM; Stanley, C; Touati, G	1
Lebel, RR; Lubs, HA; May, M; Pouls, S; Schwartz, CE; Stevenson, RE	1
Clausen, J; Dyggve, HV; Melchior, JC; Rastogi, SC	1
Klöppel, G; Seifert, G	1
Porath, U; Schreier, K	1
Fukushima, H; Inui, K; Midorikawa, M; Nishigaki, T; Okada, S; Tanaka, J; Taniike, M; Tsukamoto, H	1
Knopman, DS; Shih, VE; Tuchman, M	1
Hashimoto, T; Schram, AW; Schutgens, RB; Strijland, A; Tager, JM; van den Bosch, H; Wanders, RJ	1
Ionescu, V; Killyen, I; Radu, H; Roşu, AM; Tanase-Mogoş, I	1
Ionasescu, V; Mueller, S; Stegink, L; Weinstein, M	1
Nair, KR; Virmani, V	1

Reviews

4 review(s) available for leucine and Syndrome

Article	Year
Treatment of inherited bone marrow failure syndromes beyond transplantation. Hematology. American Society of Hematology. Education Program, 2017, 12-08, Volume: 2017, Issue:1 Topics: Androgens; Bone Marrow Diseases; Chemical and Drug Induced Liver Injury; Danazol; Female; Genetic Diseases, Inborn; Genetic Therapy; Humans; Leucine; Oxymetholone; Quercetin; Stem Cell Transplantation; Syndrome; Virilism	2017
Amino acid metabolism in the central nervous system: role of glutamate dehydrogenase. Advances in neurology, 1984, Volume: 41 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Central Nervous System; Cerebellar Ataxia; Enzyme Activation; gamma-Aminobutyric Acid; Glutamate Dehydrogenase; Glutamate Synthase; Glutamates; Glutamic Acid; Glutamine; Humans; Leucine; Mitochondria; NADP; Nerve Endings; Neuroglia; Rats; Syndrome	1984
[Diffuse nesidioblastic island hyperplasia in the juvenile hypoglycemia syndrome]. Deutsche medizinische Wochenschrift (1946), 1975, Sep-19, Volume: 100, Issue:38 Topics: Adenoma, Islet Cell; Child; Child, Preschool; Humans; Hyperplasia; Hypoglycemia; Infant; Infant, Newborn; Islets of Langerhans; Leucine; Pancreatic Neoplasms; Syndrome	1975
[Congenital metabolic acidosis in the postnatal period]. Deutsche medizinische Wochenschrift (1946), 1978, Jun-02, Volume: 103, Issue:22 Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Fructose-1,6-Diphosphatase Deficiency; Glutarates; Glycogen Storage Disease Type I; Humans; Hyperglycemia; Infant, Newborn; Isoleucine; Ketosis; Lactates; Leucine; Leukoencephalitis, Acute Hemorrhagic; Methylmalonic Acid; Propionates; Syndrome; Thiamine; Valerates; Valine	1978

Other Studies

28 other study(ies) available for leucine and Syndrome

Article	Year
Development of Sesamol Carbamate-L-Phenylalanine Prodrug Targeting L-Type Amino Acid Transporter1 (LAT1) as a Potential Antiproliferative Agent against Melanoma. International journal of molecular sciences, 2022, Jul-30, Volume: 23, Issue:15 Topics: Amino Acids; Benzodioxoles; Biological Transport; Carbamates; HEK293 Cells; Humans; Large Neutral Amino Acid-Transporter 1; Leucine; Melanoma; Phenols; Phenylalanine; Prodrugs; Syndrome	2022
[Metabonomic analysis of the urine from rat model with abnormal sapra syndrome]. Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences, 2017, Oct-28, Volume: 42, Issue:10 Topics: Amino Acids; Animals; Citric Acid; Creatine; Disease Models, Animal; Energy Metabolism; Glutamine; Glycoproteins; Isoleucine; Leucine; Metabolomics; Phenylalanine; Rats; Rats, Wistar; Syndrome	2017
Autoinflammatory mutation in NLRC4 reveals a leucine-rich repeat (LRR)-LRR oligomerization interface. The Journal of allergy and clinical immunology, 2018, Volume: 142, Issue:6 Topics: Calcium-Binding Proteins; CARD Signaling Adaptor Proteins; Female; HEK293 Cells; Humans; Infant; Infant, Newborn; Inflammasomes; Leucine; Macrophage Activation; Male; Protein Domains; Syndrome; THP-1 Cells	2018
Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes. Pediatric diabetes, 2019, Volume: 20, Issue:3 Topics: Amino Acid Substitution; Child; Diabetes Mellitus; DNA Mutational Analysis; Exome Sequencing; Hepatocyte Nuclear Factor 3-beta; Humans; Leucine; Male; Models, Molecular; Mutation, Missense; Polymorphism, Single Nucleotide; Proline; Syndrome	2019
Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report. BMC oral health, 2015, Jan-30, Volume: 15 Topics: Alanine; Amelogenesis Imperfecta; Base Sequence; Child; Codon, Nonsense; Cytosine; Dental Enamel Proteins; Exons; Female; Fibromatosis, Gingival; Frameshift Mutation; Gingival Hyperplasia; Homozygote; Humans; Leucine; Morocco; Sequence Deletion; Syndrome; Thymine	2015
Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe. European journal of human genetics : EJHG, 2008, Volume: 16, Issue:12 Topics: Amino Acid Substitution; DNA Mutational Analysis; Female; HeLa Cells; Humans; Lacrimal Apparatus Diseases; Leucine; Muscular Atrophy; Musculoskeletal Abnormalities; Nerve Tissue Proteins; Nuclear Pore Complex Proteins; Peripheral Nervous System Diseases; Phenylalanine; Point Mutation; Syndrome; Transfection	2008
A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats. Human mutation, 2009, Volume: 30, Issue:4 Topics: Abnormalities, Multiple; Amino Acid Sequence; Base Sequence; Blotting, Western; Cell Line; Eye Diseases; Family Health; Female; Gene Frequency; Genotype; Humans; LDL-Receptor Related Proteins; Leucine; Low Density Lipoprotein Receptor-Related Protein-5; Luciferases; Male; Mutation; Osteoporosis; Pedigree; Protein Sorting Signals; Recombinant Fusion Proteins; Syndrome; Trinucleotide Repeats; Turkey	2009
Defective nucleolar localization and dominant interfering properties of a parafibromin L95P missense mutant causing the hyperparathyroidism-jaw tumor syndrome. Endocrine-related cancer, 2010, Volume: 17, Issue:2 Topics: Amino Acid Sequence; Amino Acid Substitution; Animals; Carcinoma; Cell Nucleolus; Cells, Cultured; Genes, Dominant; Humans; Hyperparathyroidism; Jaw Neoplasms; Leucine; Mice; Molecular Sequence Data; Mutant Proteins; Mutation, Missense; NIH 3T3 Cells; Pedigree; Phenylalanine; Protein Transport; Sequence Homology, Amino Acid; Syndrome; Tumor Suppressor Proteins	2010
A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome. European journal of human genetics : EJHG, 2012, Volume: 20, Issue:11 Topics: Abnormalities, Multiple; Arginine; Child; Child, Preschool; Egypt; Female; Founder Effect; Heterozygote; Humans; Lamin Type A; Leucine; Mandible; Mutation, Missense; Pedigree; Polymorphism, Restriction Fragment Length; Progeria; Protein Stability; Syndrome	2012
THE THALASSEMIA SYNDROMES. BIOCHEMICAL, GENETIC AND CLINICAL CONSIDERATIONS. The American journal of medicine, 1964, Volume: 36 Topics: Biochemical Phenomena; Biochemistry; DNA; Genetics, Medical; Hemoglobins; Hemoglobins, Abnormal; Isoleucine; Leucine; Proteins; Reticulocytes; RNA; Syndrome; Thalassemia	1964
A case of hyperinsulinism/hyperammonaemia syndrome: usefulness of the oral protein tolerance for the evaluation of treatment. European journal of pediatrics, 2005, Volume: 164, Issue:3 Topics: Child; Exons; Female; Glutamate Dehydrogenase; Humans; Hyperammonemia; Hyperinsulinism; Hypoglycemia; Leucine; Mutation; Syndrome	2005
MR imaging and 1H-MR spectroscopy of a case of van der Knaap disease. Brain & development, 2006, Volume: 28, Issue:7 Topics: Adult; Brain Diseases; Cysts; Dementia, Vascular; Humans; Leucine; Leukoencephalopathy, Progressive Multifocal; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Membrane Proteins; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Serine; Syndrome	2006
Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. American journal of medical genetics. Part A, 2006, Jun-15, Volume: 140, Issue:12 Topics: Abnormalities, Multiple; Adolescent; Amino Acid Substitution; Child Behavior Disorders; Child, Preschool; Guanine Nucleotide Exchange Factors; Humans; Leucine; Male; Protein Structure, Tertiary; Syndrome	2006
Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy. Muscle & nerve, 2007, Volume: 36, Issue:3 Topics: Adolescent; Adult; Amino Acid Substitution; DNA Mutational Analysis; Female; GTP-Binding Protein gamma Subunits; Humans; Korea; Leucine; Male; Mutation, Missense; Pedigree; Reflex, Babinski; Serine; Spastic Paraplegia, Hereditary; Syndrome	2007
Morphology of the sella turcica in Axenfeld-Rieger syndrome with PITX2 mutation. Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2008, Volume: 37, Issue:8 Topics: Adolescent; Cephalometry; Chromosomes, Human, Pair 13; Codon; Cranial Fossa, Posterior; Craniofacial Abnormalities; Cytosine; Eye Abnormalities; Facial Bones; Female; Forkhead Transcription Factors; Heterozygote; Homeobox Protein PITX2; Homeodomain Proteins; Humans; Leucine; Male; Malocclusion, Angle Class III; Maxilla; Middle Aged; Mutation, Missense; Proline; Sella Turcica; Syndrome; Thymine; Tooth Abnormalities; Transcription Factors; Young Adult	2008
Characterization of alternative amino acid substitutions at arginine 830 of the androgen receptor that cause complete androgen insensitivity in three families. Human molecular genetics, 1995, Volume: 4, Issue:4 Topics: Amino Acid Sequence; Androgens; Arginine; Base Sequence; Cell Line; Disorders of Sex Development; DNA Primers; Humans; Leucine; Male; Molecular Sequence Data; Protein Binding; Receptors, Androgen; Syndrome; Transfection	1995
A mutation (Trp1193-->Leu1193) in the tyrosine kinase domain of the insulin receptor associated with type A syndrome of insulin resistance. Diabetologia, 1993, Volume: 36, Issue:5 Topics: Adult; Alleles; Amino Acid Sequence; Aminoisobutyric Acids; Base Sequence; Biological Transport; Blood Glucose; Cell Division; Cell Line, Transformed; Cells, Cultured; Consanguinity; DNA; Exons; Female; Fibroblasts; Herpesvirus 4, Human; Humans; Insulin; Insulin Resistance; Insulin-Like Growth Factor I; Leucine; Lymphocytes; Male; Molecular Sequence Data; Oligodeoxyribonucleotides; Pedigree; Point Mutation; Protein-Tyrosine Kinases; Receptor, Insulin; Reference Values; Syndrome; Thymidine; Tryptophan	1993
A natural transactivation mutation in the thyroid hormone beta receptor: impaired interaction with putative transcriptional mediators. Proceedings of the National Academy of Sciences of the United States of America, 1997, Jan-07, Volume: 94, Issue:1 Topics: Adaptor Proteins, Signal Transducing; Adult; Binding Sites; Dimerization; DNA-Binding Proteins; Genes, Reporter; Histone Acetyltransferases; Humans; Leucine; Models, Molecular; Mutation; Nuclear Proteins; Nuclear Receptor Coactivator 1; Nuclear Receptor Interacting Protein 1; Protein Binding; Receptors, Thyroid Hormone; Recombinant Proteins; Syndrome; Thyroid Hormone Resistance Syndrome; Thyroid Hormones; Transcription Factors; Transcription, Genetic; Transcriptional Activation; Valine	1997
Acute insulin responses to leucine in children with the hyperinsulinism/hyperammonemia syndrome. The Journal of clinical endocrinology and metabolism, 2001, Volume: 86, Issue:8 Topics: Adolescent; Adult; Amino Acid Substitution; Ammonia; Blood Glucose; Child; Child, Preschool; Diazoxide; Female; Glutamate Dehydrogenase; Humans; Hyperammonemia; Hyperinsulinism; Infant; Insulin; Insulin Secretion; Leucine; Male; Point Mutation; Syndrome	2001
Hyperinsulinism and hyperammonemia syndrome: report of twelve unrelated patients. Pediatric research, 2001, Volume: 50, Issue:3 Topics: Adolescent; Blood Glucose; Child; Child, Preschool; Diet; Female; Glutamate Dehydrogenase; Guanosine Triphosphate; Humans; Hyperammonemia; Hyperinsulinism; Infant; Infant, Newborn; Leucine; Lymphocytes; Male; Syndrome	2001
Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. Clinical genetics, 2002, Volume: 61, Issue:2 Topics: Adult; Exons; Family Health; Female; Gene Silencing; Guanine Nucleotide Exchange Factors; Humans; Intellectual Disability; Leucine; Male; Mutation; Mutation, Missense; Pedigree; Polymorphism, Single-Stranded Conformational; Proteins; src Homology Domains; Syndrome; X Chromosome	2002
The Dyggve-Melchior-Clausen syndrome. Clinica chimica acta; international journal of clinical chemistry, 1977, Jul-01, Volume: 78, Issue:1 Topics: Adult; Cells, Cultured; Dwarfism; Female; Fucose; Galactosamine; Glycoproteins; Glycosaminoglycans; Hexosamines; Humans; Hyaluronic Acid; Intellectual Disability; Leucine; Lymphocytes; Male; Mucopolysaccharidoses; Proteinuria; Syndrome; Time Factors; Uronic Acids	1977
Mitochondrial encephalomyopathies with the mutation of the mitochondrial tRNA(Leu(UUR)) gene. The Journal of pediatrics, 1992, Volume: 120, Issue:1 Topics: Acidosis, Lactic; Adult; Blotting, Southern; Brain Diseases; Cerebrovascular Disorders; Child; Codon; DNA, Mitochondrial; Female; Humans; Leucine; Male; Mitochondria, Muscle; Muscular Diseases; Polymerase Chain Reaction; RNA; RNA, Mitochondrial; RNA, Transfer, Leu; Syndrome	1992
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
Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease. Proceedings of the National Academy of Sciences of the United States of America, 1986, Volume: 83, Issue:16 Topics: Abnormalities, Multiple; Acetyl-CoA C-Acetyltransferase; Acetyltransferases; Acyl-CoA Oxidase; Catalase; Cell Line; Diffuse Cerebral Sclerosis of Schilder; Fibroblasts; Humans; Infant; Leucine; Methionine; Microbodies; Oxidation-Reduction; Oxidoreductases; Reference Values; Refsum Disease; Syndrome	1986
A new polygenic disturbance: cystinuria, leucinuria and spinal muscular atrophy. Journal of neurology, 1974, Volume: 207, Issue:1 Topics: Acromegaly; Adolescent; Amino Acid Metabolism, Inborn Errors; Biopsy; Child; Creatine Kinase; Cystinuria; Electromyography; Female; Humans; Leucine; Microscopy, Electron; Muscles; Muscular Atrophy; Pedigree; Spinal Cord Diseases; Syndrome	1974
Amino acid abnormality in Sjögren-Larsson syndrome. Archives of neurology, 1973, Volume: 28, Issue:3 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Dental Enamel Hypoplasia; Epilepsy; Ethylamines; Glutamine; Glycine; Histidine; Humans; Ichthyosis; Intellectual Disability; Isoleucine; Leucine; Lysine; Male; Muscle Spasticity; Retinal Degeneration; Serine; Syndrome; Valine	1973
Newer trends in the genetic and biochemical studies in the etiopathogenesis of aminoacidopathies. Neurology India, 1973, Volume: 21, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Base Sequence; Coenzymes; DNA; Enzymes; Genes, Regulator; Humans; Infant; Leucine; Mutation; Pyridoxine; Syndrome; Tryptophan; Vitamin B 12	1973