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Charles Scriver Online Courses
David Rosenblatt Online Chapters
Nancy Braverman Online Courses
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David Rosenblatt Online Chapters

Chapter 68: Vitamins: Cobalamin and Folate 135 376 Bytes
Chapter 94: Disorders of Propionate and Methylmalonate Metabolism 1 266 885 Bytes
Chapter 155: Inherited Disorders of Folate and Cobalamin Transport and Metabolism 1 826 011 Bytes
Slides for Biology 575 10 227 712 Bytes
the course schedule 24 576 Bytes
C.Ronald Scott Lecture Seattle Feb 2009 2 458 893 Bytes
Plasma Homocysteine and_Coronary Heart Disease 9 932 800 Bytes

BIOL 575

Human Biochemical Genetics - 2018

Professor David S. Rosenblatt


  1. Watkins D, Shevell M, Rosenblatt DS. Vitamins: Cobalamin and Folate. In: The Molecular and Genetic Basis of Neurologic and Psychiatric Disease (Rosenberg RN, DiMauro S, Paulson HL, Ptacek L, Nestler EJ, eds) Wolters Kluwer/Lippincott Williams & Wilkins, Philadelphia, 2008 pp733-738.
  2. Rosenblatt DS, Fenton WA. (2001). Inherited disorders of folate and cobalamin metabolism in The metabolic and molecular bases of inherited disease Scriver CR, Beaudet AL, Sly WS, Valle D, eds., 8th edition, McGraw-Hill, New York pp3897-3933.
  3. Fenton WA, Gravel RA, Rosenblatt, DS. (2001). Disorders of propionate and methylmalonic acid metabolism in The metabolic and molecular bases of inherited disease Scriver CR, Beaudet AL, Sly WS, Valle D, eds., 8th edition, McGraw-Hill, New York pp2165-2194.
  4. Dobson CM, Wai T, Leclerc D, Wilson A, Wu X, Dore C, Hudson T, Rosenblatt DS, Gravel RA (2002) Identification of the gene responsible for the cblA complementation group of vitamin B12- responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements. Proc Natl Acad Sci (USA) 99 (24): 15554-15559.
  5. Dobson CM, Wai T, Leclerc D, Kadir H, Narang M, Lerner-Ellis JP, Hudson TJ, Rosenblatt DS, Gravel RA (2002) Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. Hum Molec Genet 11 (26): 1-9.
  6. Watkins D, Ru M, Hwang H-Y, Kim CD, Murray A, Philip NS, Kim W, Legakis H, Wai T, Hilton JF, Ge B, Dore C, Hosack A, Wilson A, Gravel RA, Shane B, Hudson TJ, Rosenblatt DS (2002) Hyperhomocysteinemia due to methionine synthase deficiency, cblG: Structure of the MTR Gene, genotype diversity, and recognition of a common mutation, P1173L. Am J Hum Genet. 71: 143-153.
  7. Hilton JE, Christensen KE, Watkins D, Raby BA, Renaud Y, de la Luna S, Estivill X, MacKenzie RE, Hudson TJ, Rosenblatt DS (2003). The molecular basis of glutamate formiminotransferase deficiency. Hum Mutat 22: 67-73.
  8. Lerner-Ellis JP, Dobson CM, Wai T, Watkins D, Tirone JC, Leclerc D, Doré C, Lepage P, Gravel RA, Rosenblatt DS (2004). Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism. Hum Mutat 24: 509-516.
  9. Lerner-Ellis JP, Tirone JC, Pawelek PD, Dore C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV, Antonicka H, Forgetta V, Fobson CM, Leclerc D, Gravel RA, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, Morgan K, Rosenblatt DS (2006). Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nat Genet 38(1): 93-100.
  10. Qiu A, Jansen M, Sakaris A, Min SH, Chattopadhay S, Tsai E, Sandoval C, Zhao R, Akabas MH, Goldman ID (2006). Identification of an intestinal folate transporter and the molecular basis of hereditary folate malabsorption. Cell 127: 917-928.
  11. Coelho D, Suormala T, Stucki M, Lerner-Ellis J, Rosenblatt DS, Newbold RF, Baumgartner MR, Fowler B (2008). Gene identification and mutations of the cblD defect of vitamin B12 metabolism: one gene three genotypes. N Engl J Med 358 (4): 1454-1464.
  12. Rutsch F, Gailus S, Miousse IR, Suormala T, Sagné, Toliat MR, Nurnberg G, Wittkampf T, Buers I, Shariffi A, Stucki M, Becker C, Baumgartner M, Robenek H, Marquardt T, Hohne W, Gasnier B, Rosenblatt DS, Fowler B, Nurnberg P. (2009) Identification of a putative lysosomal cobalamin exporter mutated in the cblF inborn error of vitamin B12 metabolism. Nat Genet 41:234-239.

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