1. Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort. Issue 1 (11th February 2019) Authors: Levtova, Alina; Waters, Paula J.; Buhas, Daniela; Lévesque, Sébastien; Auray‐Blais, Christiane; Clarke, Joe T.R.; Laframboise, Rachel; Maranda, Bruno; Mitchell, Grant A.; Brunel‐Guitton, Catherine; Braverman, Nancy E. Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 1(2019) Page Start: 107 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Congenital heart defects common in rhizomelic chondrodysplasia punctata. Issue 1 (26th September 2015) Authors: Duker, Angela L.; Eldridge, Grant; Braverman, Nancy E.; Bober, Michael B. Journal: American journal of medical genetics Issue: Volume 170:Issue 1(2016) Page Start: 270 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Drug discovery for X‐linked adrenoleukodystrophy: An unbiased screen for compounds that lower very long‐chain fatty acids. Issue 10 (30th May 2021) Authors: Moser, Ann B.; Liu, Yanqiu; Shi, Xiaohai; Schrifl, Ulrike; Hiebler, Shandi; Fatemi, Ali; Braverman, Nancy E.; Steinberg, Steven J.; Watkins, Paul A. Journal: Journal of cellular biochemistry Issue: Volume 122:Issue 10(2021) Page Start: 1337 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Growth charts for individuals with rhizomelic chondrodysplasia punctata. Issue 1 (12th September 2016) Authors: Duker, Angela L.; Niiler, Tim; Eldridge, Grant; Brereton, Nga H.; Braverman, Nancy E.; Bober, Michael B. Journal: American journal of medical genetics Issue: Volume 173:Issue 1(2017) Page Start: 108 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review. Issue 5 (8th January 2015) Authors: Raval, Donna B.; Merideth, Melissa; Sloan, Jennifer L.; Braverman, Nancy E.; Conway, Robert L.; Manoli, Irini; Venditti, Charles P. Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 5(2015) Page Start: 839 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Oral Cholic Acid in Zellweger Spectrum Disorders: A Word of Caution. Issue 2 (February 2018) Authors: Klouwer, Femke C.C.; Braverman, Nancy E.; Verkade, Henkjan J.; Berendse, Kevin; Waterham, Hans R.; Wanders, Ronald J.A.; Poll-The, Bwee Tien; Koot, Bart G.P. Journal: Journal of pediatric gastroenterology and nutrition Issue: Volume 66:Issue 2(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives. Issue 3 (24th June 2013) Authors: Braverman, Nancy E.; D'Agostino, Maria Daniela; MacLean, Gillian E.; Arnold, Georgianne L.; Vockley, Jerry Journal: Developmental disabilities research reviews Issue: Volume 17:Issue 3(2013:Jun.) Page Start: 187 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects. (19th June 2014) Authors: Ferriero, Rosa; Boutron, Audrey; Brivet, Michele; Kerr, Douglas; Morava, Eva; Rodenburg, Richard J.; Bonafé, Luisa; Baumgartner, Matthias R.; Anikster, Yair; Braverman, Nancy E.; Brunetti‐Pierri, Nicola Journal: Annals of clinical and translational neurology Issue: Volume 1:Number 7(2014) Page Start: 462 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Zellweger spectrum disorder patient–derived fibroblasts with the PEX1‐Gly843Asp allele recover peroxisome functions in response to flavonoids. Issue 3 (26th October 2018) Authors: MacLean, Gillian E.; Argyriou, Catherine; Di Pietro, Erminia; Sun, Xuting; Birjandian, Sara; Saberian, Panteha; Hacia, Joseph G.; Braverman, Nancy E. Journal: Journal of cellular biochemistry Issue: Volume 120:Issue 3(2019) Page Start: 3243 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗