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

90 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
Van Scherpenzeel M, Timal S, Rymen D, Hoischen A, Wuhrer M, Hipgrave-Ederveen A, Grunewald S, Peanne R, Saada A, Edvardson S, Grønborg S, Ruijter G, Kattentidt-Mouravieva A, Brum JM, Freckmann ML, Tomkins S, Jalan A, Prochazkova D, Ondruskova N, Hansikova H, Willemsen MA, Hensbergen PJ, Matthijs G, Wevers RA, Veltman JA, Morava E, Lefeber DJ. Van Scherpenzeel M, et al. Among authors: ruijter g. Brain. 2014 Apr;137(Pt 4):1030-8. doi: 10.1093/brain/awu019. Epub 2014 Feb 24. Brain. 2014. PMID: 24566669
A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses.
Langereis EJ, Wagemans T, Kulik W, Lefeber DJ, van Lenthe H, Oussoren E, van der Ploeg AT, Ruijter GJ, Wevers RA, Wijburg FA, van Vlies N. Langereis EJ, et al. PLoS One. 2015 Sep 25;10(9):e0138622. doi: 10.1371/journal.pone.0138622. eCollection 2015. PLoS One. 2015. PMID: 26406883 Free PMC article.
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.
van de Kamp JM, Lefeber DJ, Ruijter GJ, Steggerda SJ, den Hollander NS, Willems SM, Matthijs G, Poorthuis BJ, Wevers RA. van de Kamp JM, et al. Among authors: ruijter gj. J Med Genet. 2007 Apr;44(4):277-80. doi: 10.1136/jmg.2006.044735. Epub 2006 Dec 8. J Med Genet. 2007. PMID: 17158594 Free PMC article.
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.
Valstar MJ, Bertoli-Avella AM, Wessels MW, Ruijter GJ, de Graaf B, Olmer R, Elfferich P, Neijs S, Kariminejad R, Suheyl Ezgü F, Tokatli A, Czartoryska B, Bosschaart AN, van den Bos-Terpstra F, Puissant H, Bürger F, Omran H, Eckert D, Filocamo M, Simeonov E, Willems PJ, Wevers RA, Niermeijer MF, Halley DJ, Poorthuis BJ, van Diggelen OP. Valstar MJ, et al. Among authors: ruijter gj. Hum Mutat. 2010 May;31(5):E1348-60. doi: 10.1002/humu.21234. Hum Mutat. 2010. PMID: 20232353
Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity.
Hagemeijer MC, Oussoren E, Ruijter GJG, Onkenhout W, Huidekoper HH, Ebberink MS, Waterham HR, Ferdinandusse S, de Vries MC, Huigen MCDG, Kluijtmans LAJ, Coene KLM, Blom HJ. Hagemeijer MC, et al. Among authors: ruijter gjg. JIMD Rep. 2021 May 7;61(1):12-18. doi: 10.1002/jmd2.12223. eCollection 2021 Sep. JIMD Rep. 2021. PMID: 34485012 Free PMC article.
Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB.
Meijer OLM, Welling L, Valstar MJ, Hoefsloot LH, Brüggenwirth HT, van der Ploeg AT, Ruijter GJG, Wagemans T, Wijburg FA, van Vlies N. Meijer OLM, et al. Among authors: ruijter gjg. J Inherit Metab Dis. 2016 May;39(3):437-445. doi: 10.1007/s10545-016-9916-2. Epub 2016 Feb 23. J Inherit Metab Dis. 2016. PMID: 26907177 Free PMC article.
90 results