Hendriksz CJ - Search Results

1

Mutation detection in cholestatic patients using microarray resequencing of ATP8B1 and ABCB11.

McKay KE, Bruce CK, Hartley JL, Knisely AS, Baumann U, Bockisch SS, Sturm E, Hendriksz CJ, Kelly DA, Macdonald F, Gissen P. McKay KE, et al. Among authors: hendriksz cj. F1000Res. 2013 Feb 6;2:32. doi: 10.12688/f1000research.2-32.v2. eCollection 2013. F1000Res. 2013. PMID: 24627769 Free PMC article.

2

Design and validation of a metabolic disorder resequencing microarray (BRUM1).

Bruce CK, Smith M, Rahman F, Liu ZF, McMullan DJ, Ball S, Hartley J, Kroos MA, Heptinstall L, Reuser AJ, Rolfs A, Hendriksz C, Kelly DA, Barrett TG, MacDonald F, Maher ER, Gissen P. Bruce CK, et al. Hum Mutat. 2010 Jul;31(7):858-65. doi: 10.1002/humu.21261. Hum Mutat. 2010. PMID: 20578233

3

The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges.

Jeyaraj R, Bounford KM, Ruth N, Lloyd C, MacDonald F, Hendriksz CJ, Baumann U, Gissen P, Kelly D. Jeyaraj R, et al. Among authors: hendriksz cj. Genes (Basel). 2021 Nov 21;12(11):1837. doi: 10.3390/genes12111837. Genes (Basel). 2021. PMID: 34828443 Free PMC article. Review.

4

Quantitative in vivo brain magnetic resonance spectroscopic monitoring of neurological involvement in mucopolysaccharidosis type II (Hunter Syndrome).

Davison JE, Hendriksz CJ, Sun Y, Davies NP, Gissen P, Peet AC. Davison JE, et al. Among authors: hendriksz cj. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S395-9. doi: 10.1007/s10545-010-9197-0. Epub 2010 Oct 1. J Inherit Metab Dis. 2010. PMID: 20886296

5

Oculomotor abnormalities in children with Niemann-Pick type C.

Blundell J, Frisson S, Chakrapani A, Gissen P, Hendriksz C, Vijay S, Olson A. Blundell J, et al. Mol Genet Metab. 2018 Feb;123(2):159-168. doi: 10.1016/j.ymgme.2017.11.004. Epub 2017 Nov 16. Mol Genet Metab. 2018. PMID: 29191430

6

Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review.

Vanier MT, Gissen P, Bauer P, Coll MJ, Burlina A, Hendriksz CJ, Latour P, Goizet C, Welford RW, Marquardt T, Kolb SA. Vanier MT, et al. Among authors: hendriksz cj. Mol Genet Metab. 2016 Aug;118(4):244-54. doi: 10.1016/j.ymgme.2016.06.004. Epub 2016 Jun 7. Mol Genet Metab. 2016. PMID: 27339554 Free article. Review.

7

Markers of cognitive function in individuals with metabolic disease: Morquio syndrome and tyrosinemia type III.

Blundell J, Frisson S, Chakrapani A, Kearney S, Vijay S, MacDonald A, Gissen P, Hendriksz C, Olson A. Blundell J, et al. Cogn Neuropsychol. 2018 May-Jun;35(3-4):120-147. doi: 10.1080/02643294.2018.1443913. Cogn Neuropsychol. 2018. PMID: 29741470

8

Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN).

Kurian MA, Morgan NV, MacPherson L, Foster K, Peake D, Gupta R, Philip SG, Hendriksz C, Morton JE, Kingston HM, Rosser EM, Wassmer E, Gissen P, Maher ER. Kurian MA, et al. Neurology. 2008 Apr 29;70(18):1623-9. doi: 10.1212/01.wnl.0000310986.48286.8e. Neurology. 2008. PMID: 18443314

9

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK.

Hutchin T, Preece MA, Hendriksz C, Chakrapani A, McClelland V, Okumura F, Song YZ, Iijima M, Kobayashi K, Saheki T, McKiernan P, Baumann U. Hutchin T, et al. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S151-5. doi: 10.1007/s10545-009-1116-x. Epub 2009 Jun 11. J Inherit Metab Dis. 2009. PMID: 19517266

10

Glutaryl-CoA dehydrogenase deficiency.

McClelland VM, Gissen P, Hendriksz C, Chakrapani A. McClelland VM, et al. Pediatr Res. 2007 Jan;61(1):134; author reply 134-5. doi: 10.1203/01.pdr.0b013e31802d9ab4. Pediatr Res. 2007. PMID: 17211155 No abstract available.

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