Hecht L - Search Results

1

Waisbren SE, Potter NL, Gordon CM, Green RC, Greenstein P, Gubbels CS, Rubio-Gozalbo E, Schomer D, Welt C, Anastasoaie V, D'Anna K, Gentile J, Guo CY, Hecht L, Jackson R, Jansma BM, Li Y, Lip V, Miller DT, Murray M, Power L, Quinn N, Rohr F, Shen Y, Skinder-Meredith A, Timmers I, Tunick R, Wessel A, Wu BL, Levy H, Elsas L, Berry GT. Waisbren SE, et al. Among authors: hecht l. J Inherit Metab Dis. 2012 Mar;35(2):279-86. doi: 10.1007/s10545-011-9372-y. Epub 2011 Jul 21. J Inherit Metab Dis. 2012. PMID: 21779791 Free PMC article.

2

The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.

Demirbas D, Huang X, Daesety V, Feenstra S, Haskovic M, Qi W, Gubbels CS, Hecht L, Levy HL, Waisbren SE, Berry GT. Demirbas D, et al. Among authors: hecht l. Mol Genet Metab. 2019 Apr;126(4):368-376. doi: 10.1016/j.ymgme.2019.01.016. Epub 2019 Jan 22. Mol Genet Metab. 2019. PMID: 30718057

3

The complexity of newborn screening follow-up in phenylketonuria.

Hecht LE, Wessel AE, Levy HL, Berry GT. Hecht LE, et al. JIMD Rep. 2014;17:37-9. doi: 10.1007/8904_2014_329. Epub 2014 Aug 26. JIMD Rep. 2014. PMID: 25155776 Free PMC article.

4

Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I.

Jamuar SS, Newton SA, Prabhu SP, Hecht L, Costas KC, Wessel AE, Harris DJ, Anselm I, Berry GT. Jamuar SS, et al. Among authors: hecht l. Mol Genet Metab. 2012 Aug;106(4):488-90. doi: 10.1016/j.ymgme.2012.05.018. Epub 2012 May 30. Mol Genet Metab. 2012. PMID: 22771013

5

The development of end stage renal disease in two patients with PMM2-CDG.

Tiwary H, Hecht LE, Brucker WJ, Berry GT, Rodig NM. Tiwary H, et al. JIMD Rep. 2022 Jan 10;63(2):131-136. doi: 10.1002/jmd2.12269. eCollection 2022 Mar. JIMD Rep. 2022. PMID: 35281664 Free PMC article.

6

The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantation.

Berry GT, Blume ED, Wessel A, Singh T, Hecht L, Marsden D, Sahai I, Elisofon S, Ferguson M, Kim HB, Harris DJ, Demirbas D, Almuqbil M, Nyhan WL. Berry GT, et al. Among authors: hecht l. JIMD Rep. 2020 Apr 8;54(1):3-8. doi: 10.1002/jmd2.12119. eCollection 2020 Jul. JIMD Rep. 2020. PMID: 32685343 Free PMC article.

7

Menkes disease in affected females: the clinical disease spectrum.

Smpokou P, Samanta M, Berry GT, Hecht L, Engle EC, Lichter-Konecki U. Smpokou P, et al. Among authors: hecht l. Am J Med Genet A. 2015 Feb;167A(2):417-20. doi: 10.1002/ajmg.a.36853. Epub 2014 Nov 26. Am J Med Genet A. 2015. PMID: 25428120 Free PMC article. Review.

8

A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency.

Bedoyan JK, Hecht L, Zhang S, Tarrant S, Bergin A, Demirbas D, Yang E, Shin HK, Grahame GJ, DeBrosse SD, Hoppel CL, Kerr DS, Berry GT. Bedoyan JK, et al. Among authors: hecht l. JIMD Rep. 2019 Jun 17;48(1):26-35. doi: 10.1002/jmd2.12054. eCollection 2019 Jul. JIMD Rep. 2019. PMID: 31392110 Free PMC article.

9

Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.

Granadillo JL, Chung WK, Hecht L, Corsten-Janssen N, Wegner D, Nij Bijvank SWA, Toler TL, Pineda-Alvarez DE, Douglas G, Murphy JJ, Shimony J, Shinawi M. Granadillo JL, et al. Among authors: hecht l. Hum Mutat. 2018 Dec;39(12):1875-1884. doi: 10.1002/humu.23627. Epub 2018 Sep 24. Hum Mutat. 2018. PMID: 30157302

10

Two different PDGF beta-receptor cohorts in human pericytes mediate distinct biological endpoints.

Sundberg C, Friman T, Hecht LE, Kuhl C, Solomon KR. Sundberg C, et al. Am J Pathol. 2009 Jul;175(1):171-89. doi: 10.2353/ajpath.2009.080769. Epub 2009 Jun 4. Am J Pathol. 2009. PMID: 19497991 Free PMC article.

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