Blitzer MG - Search Results

1

Profound biotinidase deficiency in two asymptomatic adults.

Wolf B, Norrgard K, Pomponio RJ, Mock DM, McVoy JR, Fleischhauer K, Shapiro S, Blitzer MG, Hymes J. Wolf B, et al. Among authors: blitzer mg. Am J Med Genet. 1997 Nov 28;73(1):5-9. doi: 10.1002/(sici)1096-8628(19971128)73:1<5::aid-ajmg2>3.0.co;2-u. Am J Med Genet. 1997. PMID: 9375914

2

Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.

Pindolia K, Jordan M, Guo C, Matthews N, Mock DM, Strovel E, Blitzer M, Wolf B. Pindolia K, et al. Mol Genet Metab. 2011 Feb;102(2):161-9. doi: 10.1016/j.ymgme.2010.10.005. Epub 2010 Oct 13. Mol Genet Metab. 2011. PMID: 21051254 Free PMC article.

3

Partial biotinidase deficiency: clinical and biochemical features.

McVoy JR, Levy HL, Lawler M, Schmidt MA, Ebers DD, Hart PS, Pettit DD, Blitzer MG, Wolf B. McVoy JR, et al. Among authors: blitzer mg. J Pediatr. 1990 Jan;116(1):78-83. doi: 10.1016/s0022-3476(05)81649-x. J Pediatr. 1990. PMID: 2295967

4

Technical standards and guidelines for the diagnosis of biotinidase deficiency.

Cowan TM, Blitzer MG, Wolf B; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee. Cowan TM, et al. Among authors: blitzer mg. Genet Med. 2010 Jul;12(7):464-70. doi: 10.1097/GIM.0b013e3181e4cc0f. Genet Med. 2010. PMID: 20539236 Free article.

5

Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.

Wolf B, Jensen KP, Barshop B, Blitzer M, Carlson M, Goudie DR, Gokcay GH, Demirkol M, Baykal T, Demir F, Quary S, Shih LY, Pedro HF, Chen TH, Slonim AE. Wolf B, et al. Hum Mutat. 2005 Apr;25(4):413. doi: 10.1002/humu.9329. Hum Mutat. 2005. PMID: 15776412

6

Summary of the Association of Professors of Human and Medical Genetics Fourth Annual Workshop.

Desnick RJ, Korf B, Blitzer MG, Saul R. Desnick RJ, et al. Among authors: blitzer mg. Am J Med Genet. 2000 Jan 17;90(2):169-72. doi: 10.1002/(sici)1096-8628(20000117)90:2<169::aid-ajmg16>3.0.co;2-9. Am J Med Genet. 2000. PMID: 10607959 No abstract available.

7

Molecular characterization of a unique patient with epimerase-deficiency galactosaemia.

Alano A, Almashanu S, Chinsky JM, Costeas P, Blitzer MG, Wulfsberg EA, Cowan TM. Alano A, et al. Among authors: blitzer mg. J Inherit Metab Dis. 1998 Jun;21(4):341-50. doi: 10.1023/a:1005342306080. J Inherit Metab Dis. 1998. PMID: 9700591

8

Intrafamilial variability in Hurler syndrome and Sanfilippo syndrome type A: implications for evaluation of new therapies.

McDowell GA, Cowan TM, Blitzer MG, Greene CL. McDowell GA, et al. Among authors: blitzer mg. Am J Med Genet. 1993 Nov 15;47(7):1092-5. doi: 10.1002/ajmg.1320470732. Am J Med Genet. 1993. PMID: 7507293

9

Medical genetics and genomics education: how do we define success? Where do we focus our resources?

Bennett RL, Waggoner D, Blitzer MG. Bennett RL, et al. Among authors: blitzer mg. Genet Med. 2017 Jul;19(7):751-753. doi: 10.1038/gim.2017.77. Epub 2017 Jun 15. Genet Med. 2017. PMID: 28617418 Free article. No abstract available.

10

The state of the medical geneticist workforce: findings of the 2003 survey of American Board of Medical Genetics certified geneticists.

Cooksey JA, Forte G, Benkendorf J, Blitzer MG. Cooksey JA, et al. Among authors: blitzer mg. Genet Med. 2005 Jul-Aug;7(6):439-43. doi: 10.1097/01.gim.0000172416.35285.9f. Genet Med. 2005. PMID: 16024977 No abstract available.

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