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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

131 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Clinical and Developmental Outcomes After 50 Years of Newborn Bloodspot Screening for Classical Galactosaemia in the Republic of Ireland.
Pereira D, Loftus E, Thompson CE, Boyle F, McNulty J, Boruah R, Crushell E, Howard C, Hughes J, Monavari AA, Treacy EP, Beegan A, Jordan N, Rogers Y, Collins A, Brady JJ, Elsammak M, Mayne PD, Knerr I. Pereira D, et al. Among authors: knerr i. JIMD Rep. 2025 May 26;66(3):e70022. doi: 10.1002/jmd2.70022. eCollection 2025 May. JIMD Rep. 2025. PMID: 40421404 Free PMC article.
Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity.
Jung R, Rauch A, Salomons GS, Verhoeven NM, Jakobs C, Michael Gibson K, Lachmann E, Sass JO, Trautmann U, Zweier C, Staatz G, Knerr I. Jung R, et al. Among authors: knerr i. Mol Genet Metab. 2006 Jul;88(3):256-60. doi: 10.1016/j.ymgme.2006.02.003. Epub 2006 Mar 20. Mol Genet Metab. 2006. PMID: 16545979
Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology.
Knerr I, Pearl PL, Bottiglieri T, Snead OC, Jakobs C, Gibson KM. Knerr I, et al. J Inherit Metab Dis. 2007 Jun;30(3):279-94. doi: 10.1007/s10545-007-0574-2. Epub 2007 Apr 24. J Inherit Metab Dis. 2007. PMID: 17457693
Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men.
Pearl PL, Gibson KM, Cortez MA, Wu Y, Carter Snead O 3rd, Knerr I, Forester K, Pettiford JM, Jakobs C, Theodore WH. Pearl PL, et al. Among authors: knerr i. J Inherit Metab Dis. 2009 Jun;32(3):343-52. doi: 10.1007/s10545-009-1034-y. Epub 2009 Jan 28. J Inherit Metab Dis. 2009. PMID: 19172412 Free PMC article. Review.
131 results