Bachrach B - Search Results

1

Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Kishnani PS, Goldstein J, Austin SL, Arn P, Bachrach B, Bali DS, Chung WK, El-Gharbawy A, Brown LM, Kahler S, Pendyal S, Ross KM, Tsilianidis L, Weinstein DA, Watson MS; ACMG Work Group on Diagnosis and Management of Glycogen Storage Diseases Type VI and IX. Kishnani PS, et al. Among authors: bachrach b. Genet Med. 2019 Apr;21(4):772-789. doi: 10.1038/s41436-018-0364-2. Epub 2019 Jan 19. Genet Med. 2019. PMID: 30659246 Free article.

2

Glycogen storage disease type IIIa presenting as non-ketotic hypoglycemia: use of a newly approved commercially available mutation analysis to non-invasively confirm the diagnosis.

Seigel J, Weinstein DA, Hillman R, Colbert B, Matthews B, Bachrach B. Seigel J, et al. Among authors: bachrach b. J Pediatr Endocrinol Metab. 2008 Jun;21(6):587-90. J Pediatr Endocrinol Metab. 2008. PMID: 18717245

3

[No title available]

[No authors listed] [No authors listed] PMID: 33600696

4

Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations.

Bachrach BE, Weinstein DA, Orho-Melander M, Burgess A, Wolfsdorf JI. Bachrach BE, et al. J Pediatr. 2002 Jun;140(6):781-3. doi: 10.1067/mpd.2002.124317. J Pediatr. 2002. PMID: 12072888

5

U.S. News and World Report's rankings of the top 50 children's hospitals for diabetes and endocrinology reflect reputation more than objective measures.

Ingram DG, Bachrach BE. Ingram DG, et al. Among authors: bachrach be. J Pediatr Endocrinol Metab. 2011;24(9-10):759-61. doi: 10.1515/jpem.2011.293. J Pediatr Endocrinol Metab. 2011. PMID: 22145470

6

I-131 treatment of graves' disease in an unsuspected first trimester pregnancy; the potential for adverse effects on the fetus and a review of the current guidelines for pregnancy screening.

Tran P, Desimone S, Barrett M, Bachrach B. Tran P, et al. Among authors: bachrach b. Int J Pediatr Endocrinol. 2010;2010:858359. doi: 10.1155/2010/858359. Epub 2010 Mar 14. Int J Pediatr Endocrinol. 2010. PMID: 20300595 Free PMC article.

7

Diagnostic challenges and considerations of cyclical Cushing's syndrome in a 15-year-old female.

An M, Hendricks L, Bachrach B. An M, et al. Among authors: bachrach b. Pediatr Endocrinol Diabetes Metab. 2020;26(2):104-107. doi: 10.5114/pedm.2020.95620. Pediatr Endocrinol Diabetes Metab. 2020. PMID: 32462853 Free article. English.

8

An infant with combination gene mutations for Monogenic Diabetes of Youth (MODY) 2 and 4, presenting with Diabetes Mellitus Requiring Insulin (DMRI) at 8 months of age.

Odem J, Munzinger E, Violand S, Van Morlan A, Rife D, Bachrach B. Odem J, et al. Among authors: bachrach b. Pediatr Diabetes. 2009 Dec;10(8):550-3. doi: 10.1111/j.1399-5448.2009.00515.x. Epub 2009 Jun 10. Pediatr Diabetes. 2009. PMID: 19515026

9

Impact on bone of an estrogen receptor-alpha gene loss of function mutation.

Smith EP, Specker B, Bachrach BE, Kimbro KS, Li XJ, Young MF, Fedarko NS, Abuzzahab MJ, Frank GR, Cohen RM, Lubahn DB, Korach KS. Smith EP, et al. Among authors: bachrach be. J Clin Endocrinol Metab. 2008 Aug;93(8):3088-96. doi: 10.1210/jc.2007-2397. Epub 2008 May 27. J Clin Endocrinol Metab. 2008. PMID: 18505767 Free PMC article.

10

Validation of HbA1c of 6.5% for diagnosing diabetes mellitus via the use of taxometric analysis.

Ingram DG, Bachrach BE. Ingram DG, et al. Among authors: bachrach be. Ann Epidemiol. 2012 Jan;22(1):66-9. doi: 10.1016/j.annepidem.2011.10.002. Epub 2011 Nov 9. Ann Epidemiol. 2012. PMID: 22071074

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