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1Academic Journal
المؤلفون: Castaño Amores, Celia, Nieto-Gómez, Pelayo
مصطلحات موضوعية: Déficit de fumarasa, Acidemia láctica, Dieta cetogénica, Enfermedad metabólica, Aciduria orgánica, Fumarase deficiency, Lactic acidosis, Ketogenic diet, Metabolic disease, Organic aciduria
Relation: Castaño Amores, C.; Nieto-Gómez, P. Fumarase deficiency: a difficult diagnosis and a challenging treatment approach. Ars Pharm, 63(2): 126-131 (2022). [10.30827/ars.v63i2.22369]; https://hdl.handle.net/10481/81355
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2Academic Journal
المؤلفون: Steinbusch, L.K.M., Wang, P., Waterval, H.W.A.H., Stassen, F.A.P.M., Coene, K.L.M., Engelke, U.F.H., Habets, D.D.J., Bierau, J., Korver-Keularts, I.M.L.W.
المصدر: Steinbusch , L K M , Wang , P , Waterval , H W A H , Stassen , F A P M , Coene , K L M , Engelke , U F H , Habets , D D J , Bierau , J & Korver-Keularts , I M L W 2021 , ' Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism ' , Journal of Inherited Metabolic Disease , vol. 44 , no. 5 , pp. 1113-1123 . https://doi.org/10.1002/jimd.12385
مصطلحات موضوعية: diagnostics, inborn error of metabolism, mass spectrometry, urine metabolomics, targeted, FUMARASE DEFICIENCY
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المؤلفون: Irene M. L. W. Korver-Keularts, Jörgen Bierau, Udo F. H. Engelke, Daphna D. J. Habets, Laura K.M. Steinbusch, Karlien L.M. Coene, Fons A.P.M. Stassen, Ping Wang, Huub W.A.H. Waterval
المساهمون: MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output
المصدر: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 44, 1113-1123
Journal of Inherited Metabolic Disease, 44(5), 1113-1123. Wiley
Journal of Inherited Metabolic Disease, 44, 5, pp. 1113-1123مصطلحات موضوعية: Fumarase deficiency, Metabolite, Urinary system, Urine, Urinalysis, Creatine, Bioinformatics, chemistry.chemical_compound, Metabolomics, Tandem Mass Spectrometry, Genetics, diagnostics, inborn error of metabolism, Medicine, Humans, Genetics (clinical), Chromatography, High Pressure Liquid, mass spectrometry, targeted, business.industry, Maple syrup urine disease, FUMARASE DEFICIENCY, Reproducibility of Results, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Original Articles, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, chemistry, Inborn error of metabolism, Metabolome, Original Article, urine metabolomics, business, Biomarkers, Metabolism, Inborn Errors
وصف الملف: application/pdf
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4
المؤلفون: Eric Lu, Shantao Li, Kathryn E. Hatchell, Heather R. Christofk, Blake R. Wilde, Brian Shuch, Keith Nykamp, Shirin Zavoshi, Liying Zhang, Sarah M. Nielsen, Karen Ouyang, Edward D. Esplin, Paul C. Boutros
المصدر: Cancer
Cancer, vol 128, iss 4مصطلحات موضوعية: Oncology, Cancer Research, Kidney Disease, Skin Neoplasms, Fumarase deficiency, urologic and male genital diseases, Germline, Fumarate Hydratase, Renal cell carcinoma, Prevalence, kidney neoplasms, 2.1 Biological and endogenous factors, Aetiology, Cancer, education.field_of_study, medicine.diagnostic_test, Penetrance, Kidney Neoplasms, Hereditary, Uterine Neoplasms, Public Health and Health Services, Female, hereditary leiomyomatosis and renal cell cancer, fumarate hydratase, medicine.medical_specialty, Oncology and Carcinogenesis, Population, Article, genetic testing, Cancer syndrome, Clinical Research, Neoplastic Syndromes, Hereditary, Leiomyomatosis, Internal medicine, Genetics, medicine, Humans, Neoplastic Syndromes, Oncology & Carcinogenesis, education, Carcinoma, Renal Cell, Germ-Line Mutation, Genetic testing, business.industry, Carcinoma, Renal Cell, medicine.disease, Germ Cells, business
وصف الملف: application/pdf
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5
المؤلفون: Jaap Bakker, Cacha Peeters, Ed Jacobs, Susan M. I. Goorden, Marieke Peetsold, Martijn H. Breuning, Monique Williams, Lydia Hussaarts-Odijk
المساهمون: Pediatrics
المصدر: Journal of Child Neurology, 36(4), 310-323. SAGE Publishing
Journal of Child Neurology, 36(4), 310-323. SAGE PUBLICATIONS INCمصطلحات موضوعية: Male, 0301 basic medicine, Microcephaly, Fumarase deficiency, literature review, 030105 genetics & heredity, Biology, medicine.disease_cause, Fumarate Hydratase, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, FH gene, Gene, chemistry.chemical_classification, Genetics, Mutation, Pathogenic mutation, Infant, medicine.disease, Enzyme, chemistry, Fumarase, Pediatrics, Perinatology and Child Health, Failure to thrive, Muscle Hypotonia, Neurology (clinical), Psychomotor Disorders, mutation, medicine.symptom, Metabolism, Inborn Errors, 030217 neurology & neurosurgery
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6Academic Journal
المؤلفون: Castaño-Amores,Celia, Nieto-Gómez,Pelayo
المصدر: Ars Pharmaceutica (Internet) v.63 n.2 2022
مصطلحات موضوعية: fumarase deficiency, lactic acidosis, ketogenic diet, metabolic disease, organic aciduria
وصف الملف: text/html
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المؤلفون: C. A. Rupar, Chitra Prasad, Charushree Prasad, Melanie Napier
المصدر: Paediatrics Publications
مصطلحات موضوعية: 0301 basic medicine, Fumarate Hydratase Deficiency, Microcephaly, medicine.medical_specialty, Neurology, Genotype, Fumarase deficiency, Karyotype, Symptom assessment, Pediatrics, Fumarate Hydratase, Pathology and Forensic Medicine, 03 medical and health sciences, 0302 clinical medicine, Exome Sequencing, medicine, Humans, Global hypotonia, Alleles, In Situ Hybridization, Fluorescence, Genetics (clinical), Exome sequencing, Genetics, business.industry, Cancer, Broad and depressed nasal bridge, General Medicine, medicine.disease, Magnetic Resonance Imaging, Pedigree, Phenotype, 030104 developmental biology, Echocardiography, Child, Preschool, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, Epicanthal folds, Muscle Hypotonia, Female, Psychomotor Disorders, Symptom Assessment, Anatomy, Energy Metabolism, business, Metabolism, Inborn Errors
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8
المصدر: Journal of Inherited Metabolic Disease. 39:683-687
مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Fumarase deficiency, Urinary system, Urine, 030105 genetics & heredity, 03 medical and health sciences, 0302 clinical medicine, Metabolic Diseases, Genetics, medicine, Humans, Hawkinsinuria, Amino Acid Metabolism, Inborn Errors, Genetics (clinical), business.industry, Maple syrup urine disease, Glutaric aciduria, Reproducibility of Results, medicine.disease, Methylmalonic aciduria, Mevalonic aciduria, Female, Laboratories, business, 030217 neurology & neurosurgery
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9
المؤلفون: Şeyma Memur, Fatih Kardaş, Mehmet Adnan Ozturk, Tamer Gunes, Hülya Halis, Levent Korkmaz, Osman Baştuğ, Zuhal Tağ
المصدر: Türk Pediatri Arşivi. 49:74-76
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Fumaric acid, Fumarase deficiency, business.industry, Case Report, Case presentation, 030105 genetics & heredity, medicine.disease, Hypotonia, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Atrophy, chemistry, Pediatrics, Perinatology and Child Health, medicine, Polymicrogyria, medicine.symptom, business, 030217 neurology & neurosurgery, Consanguineous Marriage, Ventriculomegaly
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المؤلفون: Fuchang Zhang, Zhongmin Tian, Xian Li, Zerong Liu, Entai Hou
المصدر: Biomedical chromatography : BMC. 32(4)
مصطلحات موضوعية: 0301 basic medicine, Fumaric acid, Fumarase deficiency, Clinical Biochemistry, Citric Acid Cycle, 030204 cardiovascular system & hematology, Sodium Chloride, Biochemistry, Gas Chromatography-Mass Spectrometry, Analytical Chemistry, Fumarate Hydratase, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Drug Discovery, medicine, Human Umbilical Vein Endothelial Cells, Humans, Metabolomics, Amino Acids, Molecular Biology, Pharmacology, chemistry.chemical_classification, Glutamate dehydrogenase, Reproducibility of Results, General Medicine, Metabolism, medicine.disease, Amino acid, Citric acid cycle, Metabolic pathway, 030104 developmental biology, chemistry, Fumarase, Hypertension, Metabolome, Biomarkers, Metabolic Networks and Pathways
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11
المؤلفون: F. Moore, Sue Thompson, B. Ryder, A. Mitchell, Shanti Balasubramaniam, John Christodoulou
المصدر: JIMD Reports ISBN: 9783662578797
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Fumarase deficiency, business.industry, Encephalopathy, Disease, medicine.disease, Phenotype, High fat low carbohydrate, Article, Citric acid cycle, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Endocrinology, 030220 oncology & carcinogenesis, Internal medicine, Fumarase, medicine, business, Gene
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12
المؤلفون: David R. Thorburn, Aaron Easterbrook, Joyce Y Wu, Maria Panayi, Miranda Durkie, Wendy Salter, Simone Tregoning, David Coman
المصدر: Twin Research and Human Genetics. 16:1117-1120
مصطلحات موضوعية: Male, Microcephaly, medicine.medical_specialty, Fumarase deficiency, Developmental Disabilities, Biology, Fumarate Hydratase, Pregnancy, Internal medicine, Diseases in Twins, medicine, Humans, Amnion, Global developmental delay, Genetics (clinical), Dystonia, Liver Diseases, Infant, Newborn, Obstetrics and Gynecology, Chorion, medicine.disease, Twin study, Endocrinology, Inborn error of metabolism, Mutation, Pediatrics, Perinatology and Child Health, Pregnancy, Twin, Female, Hereditary leiomyomatosis and renal cell carcinoma
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13
المؤلفون: Fatih Ezgu, Pavel Krejci, William R. Wilcox
المصدر: Gene. 524:403-406
مصطلحات موضوعية: Male, Heterozygote, medicine.medical_specialty, Tumor suppressor gene, Fumarase deficiency, Molecular Sequence Data, Biology, medicine.disease_cause, Gastroenterology, Fumarate Hydratase, Life Expectancy, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, Child, Mutation, Leiomyoma, Psychomotor retardation, Infant, General Medicine, medicine.disease, Survival Analysis, Hypotonia, Endocrinology, Child, Preschool, Fumarase, Failure to thrive, Muscle Hypotonia, Psychomotor Disorders, medicine.symptom, Metabolism, Inborn Errors
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المؤلفون: Kyu Y. Rhee, Pradeepa Jayachandran, Susan E. Puckett, Henrik Molina, Sabine Ehrt, Nadine Ruecker, Carolina Trujillo, Gerardo G. Piroli, Robert S. Jansen, Norma Frizzell
مصطلحات موضوعية: 0301 basic medicine, Fumarase deficiency, Metabolite, Clinical Biochemistry, Citric Acid Cycle, Biology, Biochemistry, Article, Microbiology, Fumarate Hydratase, Mycobacterium tuberculosis, 03 medical and health sciences, chemistry.chemical_compound, Mice, 0302 clinical medicine, Bacterial Proteins, Fumarates, Tandem Mass Spectrometry, Drug Discovery, medicine, Animals, Cysteine, Molecular Biology, Chromatography, High Pressure Liquid, Pharmacology, chemistry.chemical_classification, biology.organism_classification, medicine.disease, Citric acid cycle, Mice, Inbred C57BL, Oxidative Stress, 030104 developmental biology, Enzyme, chemistry, Fumarase, Molecular Medicine, Muscle Hypotonia, Transposon mutagenesis, Female, Psychomotor Disorders, Peptides, Protein Processing, Post-Translational, Oxidation-Reduction, 030217 neurology & neurosurgery, Metabolism, Inborn Errors
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15
المؤلفون: Mark Laudenschlager, Jason D. Flanagan, Amelia R Mroch
المصدر: American Journal of Medical Genetics Part A. :155-158
مصطلحات موضوعية: Male, medicine.medical_specialty, Fumarase deficiency, Prenatal diagnosis, Mitochondrion, Biology, Fumarate Hydratase, Fatal Outcome, Prenatal Diagnosis, Internal medicine, Genetics, medicine, Humans, Point Mutation, Agenesis of the corpus callosum, Genetics (clinical), Point mutation, Infant, Newborn, Metabolic acidosis, Gene deletion, medicine.disease, Endocrinology, Liver, Muscle Hypotonia, Agenesis of Corpus Callosum, Psychomotor Disorders, Acidosis, Gene Deletion, Metabolism, Inborn Errors, Hydrocephalus, Ventriculomegaly
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16
المؤلفون: Hanlin Gao, Tim Hutchin, George Gray, Anupam Chakrapani, Louise Brueton, Simon E. Olpin, Vivian E. Shih, Wenqi Zeng
المصدر: American Journal of Medical Genetics Part A. :1004-1009
مصطلحات موضوعية: Genotype, Fumarase deficiency, DNA Mutational Analysis, Mutant, Mutation, Missense, Biology, Fumarate Hydratase, Genetics, medicine, Humans, Allele, Genetics (clinical), Base Sequence, Homozygote, Infant, Chromosome, Uniparental Disomy, medicine.disease, Uniparental disomy, Uniparental Isodisomy, Chromosomes, Human, Pair 1, Child, Preschool, Fumarase, Mutation (genetic algorithm), Female, Metabolism, Inborn Errors
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17
المؤلفون: Pratibha Singhi, Arushi Gahlot Saini
المصدر: Journal of Child Neurology. 28:535-537
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Muscle Hypotonia, Fumarase deficiency, Developmental Disabilities, Encephalopathy, Fumarate Hydratase, Internal medicine, medicine, Humans, Psychomotor retardation, Brain Diseases, Metabolic, business.industry, Infant, Electroencephalography, medicine.disease, Magnetic Resonance Imaging, Hypotonia, Endocrinology, Inborn error of metabolism, Fumarase, Pediatrics, Perinatology and Child Health, Neurology (clinical), Psychomotor Disorders, medicine.symptom, Psychomotor disorder, business, Metabolism, Inborn Errors
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18
المؤلفون: Hana Hansikova, Stanislav Kmoch, Jiri Zeman, Stratilová L, Josef Houštěk, Jakub Krijt, Laszlo Wenchich, Petr Chrastina
المصدر: Journal of Inherited Metabolic Disease. 23:371-374
مصطلحات موضوعية: medicine.medical_specialty, Microcephaly, Adenosine, Fumarase deficiency, Mitochondrial disease, Biology, Fumarate Hydratase, Pathogenesis, Fumarates, Central Nervous System Diseases, Internal medicine, Genetics, medicine, Humans, Genetics (clinical), Psychomotor retardation, Infant, Aminoimidazole Carboxamide, medicine.disease, Hypotonia, Endocrinology, Purines, Fumarase, Failure to thrive, Female, Ribonucleosides, medicine.symptom
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19
المصدر: Annals of Neurology. 47:583-588
مصطلحات موضوعية: Multiple abnormalities, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Fumarase deficiency, medicine.diagnostic_test, business.industry, nutritional and metabolic diseases, Magnetic resonance imaging, medicine.disease, Hypotonia, Neurology, Inborn error of metabolism, Fumarase, medicine, Polymicrogyria, Neurology (clinical), medicine.symptom, Differential diagnosis, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::24c9693c14b1971feacd49ac8c5052db
https://doi.org/10.1002/1531-8249(200005)47:5<583::aid-ana5>3.0.co;2-y -
20Academic Journal
المؤلفون: Tregoning, S., Salter, W., Thorburn, D.R., Durkie, M., Panayi, M., Wu, J.Y., Easterbrook, A., Coman, D.J.
مصطلحات موضوعية: Dichorionic diamniotic, Fumarase deficiency, Hepatomegaly, Krebs tricarboxylic acid cycle, Leiomyomatosis, Renal cell carcinoma, 2716 Genetics (clinical), 2729 Obstetrics and Gynaecology, 2735 Pediatrics, Perinatology, and Child Health
Relation: orcid:0000-0001-6303-6471