Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

180 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Psychosine, a marker of Krabbe phenotype and treatment effect.
Escolar ML, Kiely BT, Shawgo E, Hong X, Gelb MH, Orsini JJ, Matern D, Poe MD. Escolar ML, et al. Among authors: matern d. Mol Genet Metab. 2017 Jul;121(3):271-278. doi: 10.1016/j.ymgme.2017.05.015. Epub 2017 May 22. Mol Genet Metab. 2017. PMID: 28579020 Free PMC article.
Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One).
Brower A, Chan K, Williams M, Berry S, Currier R, Rinaldo P, Caggana M, Gaviglio A, Wilcox W, Steiner R, Holm IA, Taylor J, Orsini JJ, Brunelli L, Adelberg J, Bodamer O, Viall S, Scharfe C, Wasserstein M, Chen JY, Escolar M, Goldenberg A, Swoboda K, Ficicioglu C, Matern D, Lee R, Watson M. Brower A, et al. Among authors: matern d. Front Genet. 2022 Jul 22;13:867337. doi: 10.3389/fgene.2022.867337. eCollection 2022. Front Genet. 2022. PMID: 35938011 Free PMC article.
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.
Waisbren SE, Levy HL, Noble M, Matern D, Gregersen N, Pasley K, Marsden D. Waisbren SE, et al. Among authors: matern d. Mol Genet Metab. 2008 Sep-Oct;95(1-2):39-45. doi: 10.1016/j.ymgme.2008.06.002. Epub 2008 Aug 3. Mol Genet Metab. 2008. PMID: 18676165 Free PMC article.
Clinical biochemical genetics in the twenty-first century.
Rinaldo P, Hahn S, Matern D. Rinaldo P, et al. Among authors: matern d. Acta Paediatr Suppl. 2004 May;93(445):22-6; discussion 27. doi: 10.1111/j.1651-2227.2004.tb03051.x. Acta Paediatr Suppl. 2004. PMID: 15176715
180 results