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

144 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Altered gut microbiome diversity and function in patients with propionic acidemia.
Tims S, Marsaux C, Pinto A, Daly A, Karall D, Kuhn M, Santra S, Roeselers G, Knol J, MacDonald A, Scholl-Bürgi S. Tims S, et al. Among authors: karall d. Mol Genet Metab. 2022 Nov;137(3):308-322. doi: 10.1016/j.ymgme.2022.09.012. Epub 2022 Oct 6. Mol Genet Metab. 2022. PMID: 36274442 Free article.
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.
Bölsterli BK, Boltshauser E, Palmieri L, Spenger J, Brunner-Krainz M, Distelmaier F, Freisinger P, Geis T, Gropman AL, Häberle J, Hentschel J, Jeandidier B, Karall D, Keren B, Klabunde-Cherwon A, Konstantopoulou V, Kottke R, Lasorsa FM, Makowski C, Mignot C, O'Gorman Tuura R, Porcelli V, Santer R, Sen K, Steinbrücker K, Syrbe S, Wagner M, Ziegler A, Zöggeler T, Mayr JA, Prokisch H, Wortmann SB. Bölsterli BK, et al. Among authors: karall d. Nutrients. 2022 Aug 31;14(17):3605. doi: 10.3390/nu14173605. Nutrients. 2022. PMID: 36079864 Free PMC article.
Haematological characteristics and spontaneous haematological recovery in Pearson syndrome.
Yoshimi A, Grünert SC, Cario H, Fisch A, Gross-Wieltsch U, Timmermann K, Kontny U, Lobitz S, Odenthal HS, Schmid I, Uetz B, Höll T, Rötig A, Lücke T, Borkhardt A, Strauß G, Hohnecker A, Metzler M, Karall D, Niemeyer CM. Yoshimi A, et al. Among authors: karall d. Br J Haematol. 2021 Jun;193(6):1283-1287. doi: 10.1111/bjh.17434. Epub 2021 Apr 10. Br J Haematol. 2021. PMID: 33837965 No abstract available.
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.
Häberle J, Burlina A, Chakrapani A, Dixon M, Karall D, Lindner M, Mandel H, Martinelli D, Pintos-Morell G, Santer R, Skouma A, Servais A, Tal G, Rubio V, Huemer M, Dionisi-Vici C. Häberle J, et al. Among authors: karall d. J Inherit Metab Dis. 2019 Nov;42(6):1192-1230. doi: 10.1002/jimd.12100. Epub 2019 May 15. J Inherit Metab Dis. 2019. PMID: 30982989 Review.
Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and Switzerland.
Nettesheim S, Kölker S, Karall D, Häberle J, Posset R, Hoffmann GF, Heinrich B, Gleich F, Garbade SF; Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (APS); European registry and network for Intoxication type Metabolic Diseases (E-IMD); Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (ESPED); Austrian Metabolic Group; Swiss Paediatric Surveillance Unit (SPSU). Nettesheim S, et al. Among authors: karall d. Orphanet J Rare Dis. 2017 Jun 15;12(1):111. doi: 10.1186/s13023-017-0661-x. Orphanet J Rare Dis. 2017. PMID: 28619060 Free PMC article.
144 results