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Journal Article
International Journal of Hematology, ISSN 0925-5710, 5/2016, Volume 103, Issue 5, pp. 479 - 480
Journal Article
Journal Article
Pediatric Blood & Cancer, ISSN 1545-5009, 03/2014, Volume 61, Issue 3, pp. 528 - 531
Journal Article
Diabetologia, ISSN 0012-186X, 5/2018, Volume 61, Issue 5, pp. 1027 - 1036
Journal Article
Gene, ISSN 0378-1119, 05/2013, Volume 519, Issue 2, pp. 295 - 297
Journal Article
Pediatrics, ISSN 0031-4005, 02/2013, Volume 131, Issue 2, pp. e629 - e634
Folate and vitamin B-12 metabolism are essential for de novo purine synthesis, and several defects in these pathways have been associated with... 
Cobalamin | Megaloblast | Hemolytic uremic syndrome | Folate | Immunodeficiency | folate | DEFECTS | cobalamin | GENE | megaloblast | TRANSCOBALAMIN-II DEFICIENCY | ABNORMALITIES | PEDIATRICS | immunodeficiency | PATIENT | hemolytic uremic syndrome | Peripheral Nervous System Diseases - diagnosis | Leukopenia - diagnosis | Lipid Metabolism, Inborn Errors - genetics | Pneumonia, Pneumocystis - diagnosis | Humans | 3-Hydroxyacyl CoA Dehydrogenases - genetics | Vitamin B 12 - therapeutic use | DNA Mutational Analysis | Sulfadoxine - therapeutic use | Cardiomyopathies - diagnosis | Infant, Newborn | Cardiomyopathies - drug therapy | Mitochondrial Myopathies | Retinitis Pigmentosa - drug therapy | Trimethoprim - therapeutic use | Combined Modality Therapy | Bone Marrow Examination | Sequence Analysis, DNA | Retinitis Pigmentosa - diagnosis | Severe Combined Immunodeficiency - genetics | Pneumonia, Pneumocystis - genetics | Immunization, Passive | Leukopenia - drug therapy | Genetic Carrier Screening | Peripheral Nervous System Diseases - drug therapy | Mitochondrial Trifunctional Protein - deficiency | Anemia, Megaloblastic - genetics | Minor Histocompatibility Antigens | Lipid Metabolism, Inborn Errors - drug therapy | Leukopenia - genetics | Infant | Rhabdomyolysis | Cardiomyopathies - genetics | Anemia, Megaloblastic - diagnosis | Female | Drug Therapy, Combination | Peripheral Nervous System Diseases - genetics | Methylenetetrahydrofolate Dehydrogenase (NADP) - genetics | Hydroxocobalamin - therapeutic use | Pneumonia, Pneumocystis - drug therapy | Severe Combined Immunodeficiency - diagnosis | Lipid Metabolism, Inborn Errors - diagnosis | Severe Combined Immunodeficiency - drug therapy | Retinitis Pigmentosa - genetics | Opportunistic Infections - genetics | Opportunistic Infections - diagnosis | Exome - genetics | Opportunistic Infections - drug therapy | Anemia, Megaloblastic - drug therapy | 3-Hydroxyacyl CoA Dehydrogenases - deficiency | Drug Combinations | Nervous System Diseases | Care and treatment | Gene mutations | Research | Nucleotide sequencing | Diagnosis | Vitamin B12 | Hemolytic-uremic syndrome | DNA sequencing | Pediatrics | Immunology | Vitamin B | Genetics | Mutation | Drug therapy | Metabolism
Journal Article
Journal of Allergy and Clinical Immunology: In Practice, ISSN 2213-2198, 2016, Volume 4, Issue 6, pp. 1160 - 1166.e10
Journal Article