المؤلفون: Gwendolyn Gramer, Saskia B. Wortmann, Junmin Fang-Hoffmann, Dirk Kohlmüller, Jürgen G. Okun, Holger Prokisch, Thomas Meitinger, Georg F. Hoffmann

المصدر: International Journal of Neonatal Screening, Vol 10, Iss 1, p 17 (2024)

مصطلحات موضوعية: newborn screening, tyrosinemia type I, succinylacetone, maleylacetoacetate isomerase deficiency, GSTZ1, Pediatrics, RJ1-570

Relation: https://www.mdpi.com/2409-515X/10/1/17; https://doaj.org/toc/2409-515X; https://doaj.org/article/3fbaeff2f15a418bae817fb842064df4

الاتاحة: https://doi.org/10.3390/ijns10010017
https://doaj.org/article/3fbaeff2f15a418bae817fb842064df4

المؤلفون: van Vliet, K., Dijkstra, A. M., Bouva, M. J., van der Krogt, J., Bijsterveld, K., van der Sluijs, F., de Sain-van der Velden, M. G., Koop, K., Rossi, A., Thomas, J. A., Patera, C. A., Kiewiet, M. B.G., Waters, P. J., Cyr, D., Boelen, A., van Spronsen, F. J., Heiner-Fokkema, M. R.

المساهمون: Genetica Sectie Metabole Diagnostiek, Child Health, Metabole ziekten patientenzorg

مصطلحات موضوعية: maleic acid, maleylacetoacetate isomerase deficiency, newborn screening, succinylacetone, tyrosinemia type 1, Genetics(clinical), Genetics, Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/449680

الاتاحة: https://dspace.library.uu.nl/handle/1874/449680

المؤلفون: van Vliet, K., Dijkstra, A. M., Bouva, M. J., van der Krogt, J., Bijsterveld, K., van der Sluijs, F., de Sain-van der Velden, M. G., Koop, K., Rossi, A., Thomas, J. A., Patera, C. A., Kiewiet, M. B.G., Waters, P. J., Cyr, D., Boelen, A., van Spronsen, F. J., Heiner-Fokkema, M. R.

المصدر: van Vliet , K , Dijkstra , A M , Bouva , M J , van der Krogt , J , Bijsterveld , K , van der Sluijs , F , de Sain-van der Velden , M G , Koop , K , Rossi , A , Thomas , J A , Patera , C A , Kiewiet , M B G , Waters , P J , Cyr , D , Boelen , A , van Spronsen , F J & Heiner-Fokkema , M R 2023 , ' Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency : ....

مصطلحات موضوعية: maleic acid, maleylacetoacetate isomerase deficiency, newborn screening, succinylacetone, tyrosinemia type 1

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/006934b2-e040-419e-b7f5-8add98a90d5c
https://research.rug.nl/en/publications/006934b2-e040-419e-b7f5-8add98a90d5c
https://doi.org/10.1002/jimd.12669
https://pure.rug.nl/ws/files/862911851/J_of_Inher_Metab_Disea_-_2023_-_Vliet_-_Maleic_acid_is_a_biomarker_for_maleylacetoacetate_isomerase_deficiency_.pdf
http://www.scopus.com/inward/record.url?scp=85167591588&partnerID=8YFLogxK

المؤلفون: Marie-Thérèse Berthier, Yves Giguère, Paula J. Waters, Rachel Laframboise, Jean-François Soucy, Denis Cyr, Grant A. Mitchell, Hao Yang, Francis Rossignol, Shu Pei Wang

المصدر: Molecular Genetics and Metabolism Reports, Vol 14, Iss C, Pp 55-58 (2018)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: medicine.medical_specialty, Maleylacetoacetate isomerase, Nitisinone, Compound heterozygosity, Asymptomatic, Tyrosinemia, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, Genetics, Medicine, Pseudodeficiency, 030212 general & internal medicine, Allele, lcsh:QH301-705.5, Molecular Biology, Fah, Fumarylacetoacetate hydrolase, lcsh:R5-920, business.industry, medicine.disease, lcsh:Biology (General), Pseudodeficiency alleles, medicine.symptom, lcsh:Medicine (General), business, Hypersuccinylacetonemia, 030217 neurology & neurosurgery, Research Paper, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44669ac539c818d7481cfd5651fb525c
https://doi.org/10.1016/j.ymgmr.2017.12.002

المؤلفون: Narges Zolfaghari

المصدر: Bioinformation

مصطلحات موضوعية: 0301 basic medicine, Maleylacetoacetate isomerase, Nitisinone, Stereochemistry, Drug design, Isomerase, 01 natural sciences, Tyrosinemia Type I, 03 medical and health sciences, Dioxygenase, medicine, 4- maleylacetoacetate isomerase, chemistry.chemical_classification, General Medicine, Hypothesis, 0104 chemical sciences, 010404 medicinal & biomolecular chemistry, 030104 developmental biology, Enzyme, chemistry, Biochemistry, Docking (molecular), rational drug design, medicine.drug, Tyrosinemia type I

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e8ec3ea8046c34c05aec84d1add0088
https://pubmed.ncbi.nlm.nih.gov/28690379

المؤلفون: Ikuo Nakamura, Tokuji Tsuchiya

المصدر: Breeding Science. 2004, 54(1):67

المؤلفون: Lance Stewart, Thomas E. Edwards, Jan Abendroth, Bart L. Staker, Cassie M. Bryan, Banumathi Sankaran, Peter J. Myler, Wesley C. Van Voorhis, Dhileep Sivam, David J. Leibly, Shellie H. Dieterich

المصدر: Acta Crystallographica Section F: Structural Biology and Crystallization Communications

مصطلحات موضوعية: Models, Molecular, Maleylacetoacetate isomerase, Coccidioides immitis, coccidioidomycosis, Biophysics, dichloroacetic acid, Protomer, Crystallography, X-Ray, Biochemistry, Structural Biology, Genetics, Transferase, Structural Communications, Humans, Coccidioides, Valley Fever, glutathione S-transferase, Glutathione Transferase, Cofactor binding, biology, thioredoxin-like fold, maleylacetoacetate isomerase, phenylalanine and tyrosine metabolism, Pathogenic fungus, Condensed Matter Physics, biology.organism_classification, Protein Structure, Tertiary, Glutathione S-transferase, Structural Homology, Protein, biology.protein, Apoproteins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a85d7f4cfefe2fd7ea7ad6869d47d19f
http://europepmc.org/articles/PMC3169399

المؤلفون: Kihyuck Choi, Hyun Gi Kong, Seon-Woo Lee, Geun Ju Son, Nazish Roy, Shabir Ahmad, Seung Yeup Lee, Raees Khan

المصدر: Journal of microbiology and biotechnology. 27(9)

مصطلحات موضوعية: 0301 basic medicine, Melanins, Ralstonia solanacearum, biology, Maleylacetoacetate isomerase, Chemistry, Tyrosinase, Hypothetical protein, Mutant, General Medicine, Gene Expression Regulation, Bacterial, biology.organism_classification, Applied Microbiology and Biotechnology, Complementation, 03 medical and health sciences, 030104 developmental biology, Biochemistry, Bacterial Proteins, Mutation, Gene, Biotechnology, Homogentisate 1,2-dioxygenase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a8c0909ab429f2edc8771adf182df5e
https://pubmed.ncbi.nlm.nih.gov/28746990

المؤلفون: Katarzyna Chamera, Agnieszka Basta-Kaim, Ewa Trojan, Maciej Suski, Katarzyna Głombik, Rafał Olszanecki, Joanna Ślusarczyk, Aneta Stachowicz, Katarzyna Kotarska

المصدر: Pharmacological reports : PR. 70(2)

مصطلحات موضوعية: 0301 basic medicine, Male, Proteomics, Imipramine, Maleylacetoacetate isomerase, Proteome, Pharmacology, Mitochondrion, Rats, Sprague-Dawley, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Fluoxetine, medicine, Animals, Depressive Disorder, Depression, General Medicine, Pyruvate dehydrogenase complex, Antidepressive Agents, Frontal Lobe, Mitochondria, Rats, Disease Models, Animal, 030104 developmental biology, Prenatal stress, Frontal lobe, Prenatal Exposure Delayed Effects, Antidepressant, Female, Psychology, 030217 neurology & neurosurgery, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::789e6c2925e4467166f3f53bfa7c7512
https://pubmed.ncbi.nlm.nih.gov/29477041

المؤلفون: Albert L. Shroads, Taimour Y. Langaee, Peter W. Stacpoole, Caitrin W. McDonough, Bonnie S. Coats

المصدر: The Journal of Clinical Pharmacology. 55:50-55

مصطلحات موضوعية: Pharmacology, Maleylacetoacetate isomerase, Dichloroacetic acid, GSTZ1, Biology, chemistry.chemical_compound, Pharmacokinetics, chemistry, Biochemistry, Toxicity, Pharmacology (medical), Phosphofructokinase 2, Tyrosine, Pharmacogenetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fc226f05b1a5508816407629489d7571
https://doi.org/10.1002/jcph.371

المؤلفون: Matthew C. Taylor, Marjorie Coggan, Philip G. Board, M. W. Anders, Hoffman B. M. Lantum, Michael W. Parker

المصدر: Biochemical Journal. 374:731-737

مصطلحات موضوعية: cis-trans-Isomerases, Maleylacetoacetate isomerase, Stereochemistry, Isomerase, Biochemistry, Gas Chromatography-Mass Spectrometry, chemistry.chemical_compound, Maleylacetoacetate isomerase activity, Humans, Enzyme kinetics, Amino Acids, Molecular Biology, Glutathione Transferase, Binding Sites, biology, Active site, Cell Biology, Glutathione, chemistry, Catalytic cycle, Spectrophotometry, Mutagenesis, Site-Directed, biology.protein, Research Article, Cysteine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4d9cb6c3e3059010b297c6c379d9bd8
https://doi.org/10.1042/bj20030625

المؤلفون: Irina A. Kosheleva, Alexander M. Boronin, Olesya I. Sazonova, Maxim O. Nagornih, Sergei L. Sokolov, Tatyana Yu. Izmalkova

المصدر: Research in Microbiology. 164:244-253

مصطلحات موضوعية: DNA, Bacterial, cis-trans-Isomerases, Maleylacetoacetate isomerase, Hydrolases, Operon, Gentisates, Molecular Sequence Data, Naphthalenes, Biology, Microbiology, Dioxygenases, Mixed Function Oxygenases, Open Reading Frames, Plasmid, Bacterial Proteins, Amino Acid Sequence, ORFS, Molecular Biology, Phylogeny, Ferredoxin, Pseudomonas putida, Pseudomonas, General Medicine, biology.organism_classification, Salicylates, Open reading frame, Biochemistry, bacteria, Oxidoreductases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f9497762bbe19078585ece24811532e
https://doi.org/10.1016/j.resmic.2012.12.007

المؤلفون: Hao Yang, Paula J. Waters, Denis Cyr, Grant A. Mitchell, Walla Al-Hertani, Shu Pei Wang, Marie-Thérèse Berthier, Francis Rossignol, Rachel Laframboise, Guy Parizeault, Yves Giguère

المصدر: Journal of medical genetics. 54(4)

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Nitisinone, Maleylacetoacetate isomerase, Adolescent, Hydrolases, Biology, GSTZ1, Compound heterozygosity, Asymptomatic, Tyrosinemia, 03 medical and health sciences, Liver disease, 0302 clinical medicine, Internal medicine, Genetics, medicine, Humans, Child, Genetics (clinical), Glutathione Transferase, Tyrosinemias, Infant, Newborn, Genetic Variation, High-Throughput Nucleotide Sequencing, Infant, medicine.disease, Heptanoates, 030104 developmental biology, Endocrinology, Liver, 030220 oncology & carcinogenesis, Child, Preschool, Fumarylacetoacetate hydrolase, Tyrosine, Female, medicine.symptom, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5548fe52b5598c434a1b878824efb02
https://pubmed.ncbi.nlm.nih.gov/27876694

المؤلفون: Taimour Y. Langaee, Tracie L. Kurtz, Zongchao Han, Peter W. Stacpoole

المصدر: Advanced Drug Delivery Reviews. 60:1478-1487

مصطلحات موضوعية: Adult, cis-trans-Isomerases, Aging, Mitochondrial Diseases, Pharmacotoxicology, Maleylacetoacetate isomerase, Genetic enhancement, Pharmaceutical Science, Pyruvate Dehydrogenase Complex, Mitochondrion, Biology, Pharmacology, Polymorphism, Single Nucleotide, Article, Humans, Child, Pyruvate Dehydrogenase Complex Deficiency Disease, Glutathione Transferase, Randomized Controlled Trials as Topic, chemistry.chemical_classification, Dichloroacetic Acid, Pyruvate dehydrogenase complex, Isoenzymes, Enzyme, Haplotypes, Biochemistry, chemistry, Phosphorylation, Drug metabolism

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f84b7a318d5ec74cbfe766be1677285a
https://doi.org/10.1016/j.addr.2008.02.014

المؤلفون: Zhou Zhou, Chengyun Han, Yi Huang, Chunmei Ren, Yan Liu, Qi Zhu, Tiantian Zhi

المصدر: Planta. 244(3)

مصطلحات موضوعية: 0106 biological sciences, 0301 basic medicine, cis-trans-Isomerases, Programmed cell death, Sucrose, Maleylacetoacetate isomerase, Hydrolases, Arabidopsis, Plant Science, 01 natural sciences, 03 medical and health sciences, chemistry.chemical_compound, Genetics, Homogentisate 1,2-dioxygenase, Homogentisate 1,2-Dioxygenase, biology, Cell Death, beta-Fructofuranosidase, Arabidopsis Proteins, Fructose, biology.organism_classification, Heptanoates, Up-Regulation, 030104 developmental biology, Invertase, chemistry, Biochemistry, Seedlings, Fumarylacetoacetate hydrolase, Carbohydrate Metabolism, 010606 plant biology & botany

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5680a7ac0e7511412dc4b865c668392b
https://pubmed.ncbi.nlm.nih.gov/27097641

المؤلفون: Peter W. Stacpoole, Albert L. Shroads, Margaret O. James, Hui-Ping Liu, Xu Guo, Vaishali Dixit

المصدر: Journal of Pharmacology and Experimental Therapeutics. 324:1163-1171

مصطلحات موضوعية: Adult, Male, Aging, medicine.medical_specialty, Adolescent, Maleylacetoacetate isomerase, Dichloroacetic acid, Urine, GSTZ1, Article, Rats, Sprague-Dawley, chemistry.chemical_compound, Internal medicine, medicine, Animals, Humans, Prospective Studies, Child, Randomized Controlled Trials as Topic, Pharmacology, chemistry.chemical_classification, Dichloroacetic Acid, Neurotoxicity, Metabolism, medicine.disease, Rats, Enzyme, Endocrinology, chemistry, Child, Preschool, Toxicity, Molecular Medicine, Metabolic Networks and Pathways

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baf778c6d728ce978cfe550830ed88b9
https://doi.org/10.1124/jpet.107.134593

المؤلفون: David P. Dixon, Robert Edwards

المصدر: Plant Science. 171:360-366

مصطلحات موضوعية: chemistry.chemical_classification, Maleylacetoacetate isomerase, Catabolism, Plant Science, General Medicine, Isomerase, Biology, Enzyme, Biochemistry, chemistry, Cis-trans-Isomerases, Genetics, Fumarylacetoacetate hydrolase, Tyrosine, Agronomy and Crop Science, Homogentisate 1,2-dioxygenase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10c5f8d0ed5dcf8078efb907d8f23621
https://doi.org/10.1016/j.plantsci.2006.04.008

المؤلفون: Stephen R. Farmer, Li Qiang

المصدر: Biochemical and Biophysical Research Communications. 340:845-851

مصطلحات موضوعية: cis-trans-Isomerases, DNA, Complementary, Time Factors, Maleylacetoacetate isomerase, Blotting, Western, Genetic Vectors, Peroxisome Proliferator-Activated Receptors, Biophysics, Mice, Transgenic, Ligands, Biochemistry, Antioxidants, Gene Expression Regulation, Enzymologic, Mass Spectrometry, Mice, chemistry.chemical_compound, Western blot, 3T3-L1 Cells, Adipocyte, Adipocytes, CCAAT-Enhancer-Binding Protein-alpha, medicine, Animals, Protein Isoforms, Electrophoresis, Gel, Two-Dimensional, RNA, Messenger, Molecular Biology, Cells, Cultured, Chromatography, High Pressure Liquid, Glutathione Transferase, biology, medicine.diagnostic_test, Reverse Transcriptase Polymerase Chain Reaction, Cell Differentiation, Cell Biology, Glutathione, Fibroblasts, Lipid Metabolism, Molecular biology, Protein Structure, Tertiary, PPAR gamma, Glutathione S-transferase, chemistry, Adipogenesis, Perilipin, biology.protein, Ectopic expression, Plasmids

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc5f585c0d79af08b2740707dbdbeeb5
https://doi.org/10.1016/j.bbrc.2005.12.067

المؤلفون: Atanu Kumar Jana, Deepali Karnik, C E Eapen, A Oommen, Niranjan Thomas

المصدر: Scopus-Elsevier

مصطلحات موضوعية: medicine.medical_specialty, Maleylacetoacetate isomerase, Urinary system, Tyrosinemia Type I, Tyrosinemia, chemistry.chemical_compound, Methionine, Renal aminoaciduria, Internal medicine, medicine, Humans, Renal Aminoacidurias, Tyrosine, Tyrosinemias, business.industry, Infant, Newborn, medicine.disease, Endocrinology, chemistry, Pediatrics, Perinatology and Child Health, Fumarylacetoacetate hydrolase, Female, alpha-Fetoproteins, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09fc23efdebf2b8795e5028e0cf16a42
https://doi.org/10.1007/bf02830839

المؤلفون: Anneke C. Blackburn, Mark E. Koina, Richard P. Davis, Klaus I. Matthaei, Cindy E.L. Lim, M. W. Anders, Philip G. Board, Jane E. Dahlstrom

المصدر: The American Journal of Pathology. 165:679-693

مصطلحات موضوعية: Male, cis-trans-Isomerases, Maleylacetoacetate isomerase, Phenylalanine, Dichloroacetic acid, GSTZ1, Biology, Kidney, Hepatitis, Pathology and Forensic Medicine, Acetone, Mice, chemistry.chemical_compound, Oxidoreductase, Leukocytes, NAD(P)H Dehydrogenase (Quinone), Animals, Tyrosine, Glutathione Transferase, Mice, Knockout, chemistry.chemical_classification, Mice, Inbred BALB C, Maleates, Animal Models, Molecular biology, Diet, Heptanoates, Up-Regulation, Isoenzymes, Mice, Inbred C57BL, Enzyme, Glutathione S-Transferase pi, Liver, chemistry, Biochemistry, Cis-trans-Isomerases, Models, Animal, Female, Spleen

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a2975d5fb2ea152f302ce885055a6a0
https://doi.org/10.1016/s0002-9440(10)63332-9