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1Academic Journal
المؤلفون: Orna Staretz-Chacham, Nadirah S. Damseh, Suha Daas, Nasser Abu Salah, Yair Anikster, Ortal Barel, Elena Dumin, Aviva Fattal-Valevski, Tzipora C. Falik-Zaccai, Eli Hershkovitz, Sagi Josefsberg, Yuval Landau, Tally Lerman-Sagie, Hanna Mandel, Rachel Rock, Nira Rostami, Talya Saraf-Levy, Nava Shaul Lotan, Ronen Spiegel, Galit Tal, Igor Ulanovsky, Yael Wilnai, Stanley H. Korman, Shlomo Almashanu
المصدر: Frontiers in Genetics, Vol 14 (2023)
مصطلحات موضوعية: newborn screening (NBS), hereditary orotic aciduria, uridine monophosphate synthase, orotic acid, megaloblastic anemia, neurodevelopmental disability, Genetics, QH426-470
وصف الملف: electronic resource
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المؤلفون: Suha Daas, Nasser Abu Salah, Yair Anikster, Ortal Barel, Nadirah S. Damseh, Elena Dumin, Aviva Fattal‐Valevski, Tzipora C. Falik‐Zaccai, Clair Habib, Sagi Josefsberg, Stanley H. Korman, Katya Kneller, Yuval Landau, Tally Lerman‐Sagie, Hanna Mandel, Yehoshua Manor, Tameemi Moady Abdalla, Rachel Rock, Nira Rostami, Ann Saada, Talya Saraf‐Levy, Nava Shaul Lotan, Ronen Spiegel, Orna Staretz‐Chacham, Galit Tal, Igor Ulanovsky, Taly Vaisid, Yael Wilnai, Shlomo Almashanu
المصدر: Journal of Inherited Metabolic Disease. 46:232-242
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: Spyros, Batzios, Galit, Tal, Andrew T, DiStasio, Yanyan, Peng, Christiana, Charalambous, Paola, Nicolaides, Erik-Jan, Kamsteeg, Stanley H, Korman, Hanna, Mandel, Peter J, Steinbach, Ling, Yi, Summer R, Fair, Mark E, Hester, Anthi, Drousiotou, Stephen G, Kaler
المصدر: Human Molecular Genetics. 31:4121-4130
مصطلحات موضوعية: Male, Twins, Mutation, Missense, Infant, Neurodegenerative Diseases, Syndrome, General Medicine, Seizures, Genetics, Humans, Molecular Biology, Copper, Genetics (clinical), Copper Transporter 1
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المؤلفون: Orna Staretz-Chacham, Nadirah S. Damseh, Suha Daas, Nasser Abu Salah, Yair Anikster, Ortal Barel, Elena Dumin, Aviva Fattal-Valevski, Tzipora C. Falik-Zaccai, Eli Hershkovitz, Sagi Josefsberg, Yuval Landau, Tally Lerman-Sagie, Hanna Mandel, Rachel Rock, Nira Rostami, Talya Saraf-Levy, Nava Shaul Lotan, Ronen Spiegel, Galit Tal, Igor Ulanovsky, Yael Wilnai, Stanley H. Korman, Shlomo Almashanu
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, newborn screening (NBS), hereditary orotic aciduria, uridine monophosphate synthase, orotic acid, megaloblastic anemia, neurodevelopmental disability
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المؤلفون: Naama Yosha-Orpaz, Hatem Khammash, Shlomo Almashanu, Hanna Mandel, Ronella Marom, Ben Pode-Shakked, Avraham Shaag, Taly Vaisid, Avi Zeharia, Dror Mandel, Ayala Blau, Ronen Spiegel, Ann Saada, Eli Hershkovitz, Erez Nadir, Iris Morag, Talya Saraf-Levy, Suha Daas, Nava Shaul Lotan, Rimona Keidar, Yair Anikster, Reeval Segel, Elena Dumin, Galit Tal, Sagi Ben Yehoshua Josefsberg, Elon Pras, Nira Rostami, Tally Lerman-Sagie, Nasser Abu Salah, Tzipora C. Falik-Zaccai, Haike Reznik-Wolf, Ehud Banne, Orna Staretz-Chacham, Yuval Landau, Aviva Fattal-Valevski, Stanley H Korman, Igor Ulanovsky, Dalit E. Dar
المصدر: Journal of Inherited Metabolic Disease. 44:606-617
مصطلحات موضوعية: Male, medicine.medical_specialty, Orotic acid, Gastroenterology, 03 medical and health sciences, chemistry.chemical_compound, Neonatal Screening, Internal medicine, Genetics, Citrulline, Humans, Medicine, Israel, Dried blood, Urea Cycle Disorders, Inborn, Genetics (clinical), Ornithine transcarbamylase deficiency, Retrospective Studies, 030304 developmental biology, Orotic Acid, 0303 health sciences, Newborn screening, business.industry, 030305 genetics & heredity, High mortality, Infant, Newborn, food and beverages, medicine.disease, Ornithine Carbamoyltransferase Deficiency Disease, Glutamine, chemistry, Urea cycle, Female, Dried Blood Spot Testing, business, medicine.drug
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المؤلفون: Anna Idin, Elena Dumin, Galit Tal, Stanley H Korman
المصدر: Clinical Chemistry. 65:1610-1612
مصطلحات موضوعية: Male, 0301 basic medicine, Bicarbonate, Clinical Biochemistry, Ethyl acetate, Anion gap, Urine, 030204 cardiovascular system & hematology, Diabetic Ketoacidosis, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, medicine, Humans, Chromatography, Biochemistry (medical), Ketosis, Venous blood, medicine.disease, Ketoacidosis, 030104 developmental biology, chemistry, Child, Preschool, Base excess, Acidosis, Urine organic acids
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المؤلفون: Elena Dumin, Anna Idin, Dalit E. Dar, Galit Tal, Stanley H Korman
المصدر: Clinical Chemistry. 64:978-980
مصطلحات موضوعية: Male, Ornithine, 0301 basic medicine, Arginine, Clinical Biochemistry, Excretion, 03 medical and health sciences, chemistry.chemical_compound, Crohn Disease, Valerates, medicine, Humans, Amino Acid Metabolism, Inborn Errors, Hyperornithinemia, chemistry.chemical_classification, Hyperargininemia, 030109 nutrition & dietetics, Chromatography, Biochemistry (medical), Middle Aged, medicine.disease, Argininemia, Amino acid, Arginase, chemistry, Urine organic acids
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المؤلفون: Elena Dumin, Shlomo Almashanu, Stanley H. Korman, Galit Tal, Dalit E. Dar
المصدر: Pediatrics in review. 40(12)
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Nitisinone, Chorionic villus sampling, Organic Anion Transporters, Tyrosinemia Type I, Pallor, Tyrosinemia, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Medicine, Humans, 030212 general & internal medicine, Hypoalbuminemia, Amino Acids, Newborn screening, Citrullinemia, medicine.diagnostic_test, business.industry, Tyrosinemias, Siblings, Calcium-Binding Proteins, Infant, Jaundice, medicine.disease, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, business, Liver Failure, medicine.drug
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المؤلفون: Avraham Shaag, Suha Daas, Elon Pras, Ben Pode-Shakked, Smadar Abraham, Talya Saraf-Levy, Naomi Pode-Shakked, Shlomo Almashanu, Yuval Landau, Stanley H Korman, Haike Reznik-Wolf, Katya Kneller, Asaf Vivante, Yair Anikster, Igor Ulanovsky
المصدر: European Journal of Medical Genetics. 63:103901
مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Ataxia, Adolescent, BCKDHB, BCKDHA, 030105 genetics & heredity, Asymptomatic, 03 medical and health sciences, Maple Syrup Urine Disease, Valine, Genetics, Humans, Medicine, Genetic Testing, Child, Genetics (clinical), Newborn screening, business.industry, Maple syrup urine disease, General Medicine, medicine.disease, Phenotype, 030104 developmental biology, Child, Preschool, Mutation, Disease Progression, Female, Leucine, medicine.symptom, business, Protein Kinases
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المؤلفون: Lital Adler, Noa Stettner, Shani Agron, David Dimmock, Shalev Itzkovitz, Daniel Helbling, Qin Sun, Alexander Brandis, Ayelet Erez, Eytan Ruppin, Alona Sarver, Shiran Rabinovich, Stanley H. Korman, Sandesh C.S. Nagamani, Keren Yizhak, Igor Ulitsky, Alon Silberman
المصدر: Nature
مصطلحات موضوعية: Male, Urea cycle disorder, Argininosuccinate synthase, Down-Regulation, Organic Anion Transporters, P70-S6 Kinase 1, Mice, SCID, Argininosuccinate Synthase, Biology, Article, Mice, Cytosol, pyrimidine synthesis, Cell Line, Tumor, Neoplasms, Aspartate Carbamoyltransferase, medicine, Animals, Humans, Citrin, Phosphorylation, Dihydroorotase, PI3K/AKT/mTOR pathway, Cell Proliferation, Aspartic Acid, Citrullinemia, Multidisciplinary, TOR Serine-Threonine Kinases, Calcium-Binding Proteins, medicine.disease, 3. Good health, Cell biology, Enzyme Activation, Aspartate carbamoyltransferase, Pyrimidines, Biochemistry, Pyrimidine metabolism, mTOR, biology.protein, Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing), Warburg effect
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المؤلفون: Orly Elpeleg, Eli Hershkovitz, Morad Khayat, Stanley H. Korman, Hanna Mandel, Ronen Spiegel, Stavit A. Shalev, Yoseph Horovitz, Avraham Shaag, Ido Yatsiv, Flora Barghuti, Ann Saada
المصدر: Journal of Medical Genetics. 48:177-182
مصطلحات موضوعية: Male, Severe muscular hypotonia, Neonatal onset, Consanguinity, Biology, Mitochondrial Proteins, Young Adult, Ethnicity, Genetics, medicine, Humans, Genetics (clinical), Cell Nucleus, Arthrogryposis, Splice site mutation, ATP synthase, Infant, Newborn, Infant, Membrane Proteins, Syndrome, Cardiomyopathy, Hypertrophic, medicine.disease, Hypotonia, Proton-Translocating ATPases, Child, Preschool, Lactic acidosis, Mutation, biology.protein, Acidosis, Lactic, Female, medicine.symptom, Metabolism, Inborn Errors
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المؤلفون: Simon Edvardson, Avraham Shaag, Hyla Allouche-Arnon, Rachel Katz-Brull, J. Moshe Gomori, Stanley H. Korman, Amir Livne, Ruppen Nalbandian, Ann Saada
المصدر: Molecular Genetics and Metabolism. 101:228-232
مصطلحات موضوعية: Male, Amidinotransferases, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Respiratory chain, Urine, Creatine, Biochemistry, chemistry.chemical_compound, Cognition, Endocrinology, Internal medicine, Genetics, medicine, Humans, Child, Frameshift Mutation, Myopathy, Amino Acid Metabolism, Inborn Errors, Molecular Biology, Muscle weakness, Treatment Outcome, chemistry, Female, Creatine Monohydrate, medicine.symptom, Arginine:glycine amidinotransferase, Urine organic acids
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المؤلفون: Dorit Lev, Alexander Lossos, Jerry Vockley, Tally Lerman-Sagie, Esther Leshinsky-Silver, Charles R. Roe, Stanley H. Korman, Anne Marie Lamhonwah, Ingrid Tein, Dietrich Matern, Niels Gregersen, Bruria Ben-Zeev, Orly Elpeleg, Gerard T. Berry
المصدر: Molecular Genetics and Metabolism. 93:179-189
مصطلحات موضوعية: Adult, Butyryl-CoA Dehydrogenase, Male, Heterozygote, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Gene mutation, Biology, Biochemistry, ACADS, Mice, Endocrinology, Muscular Diseases, Internal medicine, Genetics, medicine, Animals, Humans, Point Mutation, Abnormalities, Multiple, Allele, Child, Myopathy, Molecular Biology, Alleles, DNA Primers, Base Sequence, Homozygote, Infant, Newborn, Infant, Penetrance, Founder Effect, Recombinant Proteins, Hypotonia, Phenotype, Child, Preschool, Jews, Butyryl-CoA Dehydrogenase Deficiency, Female, medicine.symptom, Metabolism, Inborn Errors, Founder effect
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المؤلفون: Stanley H. Korman, Alisa Gutman
المصدر: Developmental Medicine & Child Neurology. 44:712-720
مصطلحات موضوعية: medicine.medical_specialty, Hyperglycinemia, Hyperglycinemia, Nonketotic, Glycine, Genes, Recessive, Consanguinity, Glycine encephalopathy, Diagnosis, Differential, Epilepsy, Developmental Neuroscience, Pregnancy, Internal medicine, Prenatal Diagnosis, medicine, Ketotic hyperglycinemia, Humans, False Positive Reactions, Chromosome Aberrations, Neurologic Examination, business.industry, Follow up studies, Infant, Newborn, Brain Diseases, Metabolic, Inborn, Glycine degradation, medicine.disease, Endocrinology, Child, Preschool, Pediatrics, Perinatology and Child Health, Anticonvulsants, Female, Epilepsy, Tonic-Clonic, Neurology (clinical), business, Follow-Up Studies
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المؤلفون: PS Darmin, Gajja S. Salomons, Ziva Ben-Neriah, Stanley H. Korman, Alisa Gutman, Imad Dweikat, Isaiah D. Wexler, Marjo S. van der Knaap, Cornelis Jakobs
المساهمون: Laboratory Medicine, Pediatric surgery, Academic Medical Center
المصدر: Korman, S H, Jakobs, C, Darmin, P S, Gutman, A, van der Knaap, M S, Ben-Neriah, Z, Dweikat, I, Wexler, I D & Salomons, G S 2007, ' Glutaric aciduria type 1 : Clinical, biochemical and molecular findings in patients from Israel ', European Journal of Paediatric Neurology, vol. 11, no. 2, pp. 81-89 . https://doi.org/10.1016/j.ejpn.2006.11.006
European Journal of Paediatric Neurology, 11(2), 81-89. W.B. Saunders Ltd
European journal of paediatric neurology : EJPN, 11(2), 81-89. W.B. Saunders Ltdمصطلحات موضوعية: Adult, Male, Threonine, Pediatrics, medicine.medical_specialty, Adolescent, Population, Prenatal diagnosis, Glutaric aciduria type 1, Glutaric acid, Asymptomatic, Organic aciduria, Glutarates, chemistry.chemical_compound, medicine, Humans, Isoleucine, Israel, Child, education, education.field_of_study, Glutaryl-CoA Dehydrogenase, Genetic heterogeneity, business.industry, Glutaric aciduria, Brain Diseases, Metabolic, Inborn, Infant, General Medicine, medicine.disease, Magnetic Resonance Imaging, chemistry, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business
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المؤلفون: Richard J. Deckelbaum, Stanley H. Korman
مصطلحات موضوعية: medicine.medical_specialty, medicine, Giardia lamblia, Biology, medicine.disease_cause, Pediatric gastroenterology, Microbiology
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المؤلفون: Stanley H. Korman
المصدر: Molecular Genetics and Metabolism. 89:289-299
مصطلحات موضوعية: Oxidoreductases Acting on CH-CH Group Donors, medicine.medical_specialty, Episodic ketoacidosis, Endocrinology, Diabetes and Metabolism, Biology, Biochemistry, Endocrinology, ACADSB, Internal medicine, Genetics, medicine, Humans, Acetyl-CoA C-Acetyltransferase, Isoleucine, Amino Acid Metabolism, Inborn Errors, Molecular Biology, X chromosome, Newborn screening, ACAT1, 3-Hydroxyacyl CoA Dehydrogenases, medicine.disease, Ketoacidosis, Alcohol Oxidoreductases, Urine organic acids
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المؤلفون: Stanley H. Korman, Mokhtar Zater, Imad Dweikat, Avihu Boneh, Vardiella Meiner, Michèle Brivet, James Pitt, Alisa Gutman
المصدر: Molecular Genetics and Metabolism. 89:332-338
مصطلحات موضوعية: DNA, Complementary, RNA Splicing, Endocrinology, Diabetes and Metabolism, Carnitine-acylcarnitine translocase, Compound heterozygosity, medicine.disease_cause, Biochemistry, Frameshift mutation, Exon, Fatal Outcome, Endocrinology, Genetics, medicine, Humans, Carnitine palmitoyltransferase II, Allele, Amino Acid Metabolism, Inborn Errors, Molecular Biology, Mutation, biology, Infant, Newborn, Membrane Transport Proteins, Sequence Analysis, DNA, Molecular biology, biology.protein, Mutation testing, Female, Genes, Lethal
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المؤلفون: Stanley H. Korman, Alisa Gutman, Marie Odile Rolland, Junko Kanno, Shigeo Kure, Isaiah D. Wexler
المصدر: Annals of Neurology. 59:411-415
مصطلحات موضوعية: medicine.medical_specialty, Hyperglycinemia, Hyperglycinemia, Nonketotic, DNA Mutational Analysis, Glycine encephalopathy, GCSH, Cerebrospinal fluid, Multienzyme Complexes, Transferases, Sodium Benzoate, Internal medicine, Humans, Medicine, Missense mutation, Prospective Studies, Aldehydes, Glycine cleavage system, business.industry, Infant, Newborn, medicine.disease, Neonatal hypotonia, Endocrinology, Neurology, Cord blood, Glycine Dehydrogenase, Mutation, Epoxy Compounds, Female, Ketamine, Amino Acid Oxidoreductases, Neurology (clinical), Carrier Proteins, business, Excitatory Amino Acid Antagonists, Follow-Up Studies
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المؤلفون: Israela Lerer, Avihu Boneh, Stanley H. Korman, Ziva Ben-Neriah, Kenichi Sato, Yoichi Matsubara, Shigeo Kure, Junko Kanno
المصدر: Journal of Human Genetics. 50:230-234
مصطلحات موضوعية: Male, Threonine, Hyperglycinemia, Hyperglycinemia, Nonketotic, Encephalopathy, Population, Glycine, Codon, Initiator, Biology, Glycine encephalopathy, chemistry.chemical_compound, Methionine, Genetics, medicine, Humans, Point Mutation, RNA, Messenger, Israel, education, Genetics (clinical), education.field_of_study, Glycine cleavage system, Point mutation, Glycine Dehydrogenase (Decarboxylating), medicine.disease, Molecular biology, Arabs, Pedigree, Amino Acid Substitution, chemistry, Female, Amino Acid Oxidoreductases
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