المؤلفون: Cario H; Department of Pediatrics and Adolescent Medicine, University Hospital, Ulm, Germany. holger.cario@uniklinik-ulm.de, Smith DE, Blom H, Blau N, Bode H, Holzmann K, Pannicke U, Hopfner KP, Rump EM, Ayric Z, Kohne E, Debatin KM, Smulders Y, Schwarz K

المصدر: American journal of human genetics [Am J Hum Genet] 2011 Feb 11; Vol. 88 (2), pp. 226-31.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Anemia, Megaloblastic/*genetics , Folic Acid Deficiency/*diagnosis , Mutation/*genetics , Nervous System Diseases/*genetics , Tetrahydrofolate Dehydrogenase/*deficiency , Tetrahydrofolate Dehydrogenase/*genetics, Anemia, Megaloblastic/diagnosis ; Child ; Child, Preschool ; Erythrocytes/metabolism ; Female ; Fluoresceins/metabolism ; Folic Acid/blood ; Folic Acid/cerebrospinal fluid ; Folic Acid Deficiency/blood ; Folic Acid Deficiency/cerebrospinal fluid ; Homozygote ; Humans ; Male ; Methotrexate/analogs & derivatives ; Methotrexate/metabolism ; Models, Molecular ; Nervous System Diseases/diagnosis ; Pedigree ; Protein Conformation ; Tetrahydrofolate Dehydrogenase/chemistry

المؤلفون: Banka S; Genetic Medicine, Manchester Academic Health Sciences Centre (MAHSC), St. Mary's Hospital, University of Manchester, Manchester, UK., Blom HJ, Walter J, Aziz M, Urquhart J, Clouthier CM, Rice GI, de Brouwer AP, Hilton E, Vassallo G, Will A, Smith DE, Smulders YM, Wevers RA, Steinfeld R, Heales S, Crow YJ, Pelletier JN, Jones S, Newman WG

المصدر: American journal of human genetics [Am J Hum Genet] 2011 Feb 11; Vol. 88 (2), pp. 216-25.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Amino Acid Metabolism, Inborn Errors/*genetics , Anemia, Megaloblastic/*genetics , Pancytopenia/*genetics , Tetrahydrofolate Dehydrogenase/*deficiency , Tetrahydrofolate Dehydrogenase/*genetics, Amino Acid Metabolism, Inborn Errors/drug therapy ; Amino Acid Metabolism, Inborn Errors/pathology ; Amino Acid Sequence ; Anemia, Megaloblastic/drug therapy ; Anemia, Megaloblastic/pathology ; Base Sequence ; Biopterins/analogs & derivatives ; Biopterins/metabolism ; Brain/enzymology ; Brain/pathology ; Female ; Folic Acid/cerebrospinal fluid ; Folic Acid Deficiency/cerebrospinal fluid ; Humans ; Infant ; Leucovorin/therapeutic use ; Magnetic Resonance Imaging ; Male ; Models, Molecular ; Molecular Sequence Data ; Pancytopenia/drug therapy ; Pancytopenia/pathology ; Pedigree ; Protein Conformation ; Sequence Homology, Amino Acid ; Tetrahydrofolate Dehydrogenase/chemistry

المؤلفون: Goyette P; Department of Human Genetics, McGill University, Montreal, Quebec, Canada., Frosst P, Rosenblatt DS, Rozen R

المصدر: American journal of human genetics [Am J Hum Genet] 1995 May; Vol. 56 (5), pp. 1052-9.

نوع المنشور: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Print ISSN: 0002-9297 (Print) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Metabolism, Inborn Errors/*enzymology , Mutation/*genetics , Oxidoreductases Acting on CH-NH Group Donors/*deficiency , Oxidoreductases Acting on CH-NH Group Donors/*genetics , Tetrahydrofolates/*metabolism, Adolescent ; Adult ; Age of Onset ; Amino Acid Sequence ; Base Sequence ; Child, Preschool ; Female ; Genotype ; Homozygote ; Humans ; Infant ; Male ; Methylenetetrahydrofolate Reductase (NADPH2) ; Molecular Sequence Data ; Phenotype ; RNA Splicing ; Sequence Homology, Amino Acid ; Tetrahydrofolate Dehydrogenase/genetics

المؤلفون: Anagnou NP; Clinical Hematology Branch, National Heart, Lung and Blood Institute, Bethesda, MD 20205., Antonarakis SE, O'Brien SJ, Modi WS, Nienhuis AW

المصدر: American journal of human genetics [Am J Hum Genet] 1988 Feb; Vol. 42 (2), pp. 345-52.

نوع المنشور: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Print ISSN: 0002-9297 (Print) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Mapping* , Polymorphism, Genetic* , Pseudogenes* , Racial Groups*, Tetrahydrofolate Dehydrogenase/*genetics, Animals ; Chromosome Banding ; Chromosomes, Human, Pair 3 ; Chromosomes, Human, Pair 5 ; Cricetinae ; Cricetulus ; Humans ; Hybrid Cells ; Karyotyping ; Mice ; Nucleic Acid Hybridization