Walter JH - Search Results

1

Walter JH, Jahnke N, Remmington T. Walter JH, et al. Cochrane Database Syst Rev. 2011 Aug 10;(8):CD008840. doi: 10.1002/14651858.CD008840.pub2. Cochrane Database Syst Rev. 2011. Update in: Cochrane Database Syst Rev. 2013 Aug 01;(8):CD008840. doi: 10.1002/14651858.CD008840.pub3 PMID: 21833972 Updated. Review.

2

Newborn screening for homocystinuria.

Walter JH, Jahnke N, Remmington T. Walter JH, et al. Cochrane Database Syst Rev. 2013 Aug 1;(8):CD008840. doi: 10.1002/14651858.CD008840.pub3. Cochrane Database Syst Rev. 2013. Update in: Cochrane Database Syst Rev. 2015 Oct 01;(10):CD008840. doi: 10.1002/14651858.CD008840.pub4 PMID: 23908001 Updated. Review.

3

Newborn screening for homocystinuria.

Walter JH, Jahnke N, Remmington T. Walter JH, et al. Cochrane Database Syst Rev. 2015 Oct 1;2015(10):CD008840. doi: 10.1002/14651858.CD008840.pub4. Cochrane Database Syst Rev. 2015. PMID: 26423208 Free PMC article. Review.

4

The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria.

Moat SJ, Bao L, Fowler B, Bonham JR, Walter JH, Kraus JP. Moat SJ, et al. Among authors: walter jh. Hum Mutat. 2004 Feb;23(2):206. doi: 10.1002/humu.9214. Hum Mutat. 2004. PMID: 14722927

5

Arguments for early screening: a clinician's perspective.

Walter JH. Walter JH. Eur J Pediatr. 2003 Dec;162 Suppl 1:S2-4. doi: 10.1007/s00431-003-1340-6. Epub 2003 Nov 29. Eur J Pediatr. 2003. PMID: 14648212

6

Impact of age at onset and newborn screening on outcome in organic acidurias.

Heringer J, Valayannopoulos V, Lund AM, Wijburg FA, Freisinger P, Barić I, Baumgartner MR, Burgard P, Burlina AB, Chapman KA, I Saladelafont EC, Karall D, Mühlhausen C, Riches V, Schiff M, Sykut-Cegielska J, Walter JH, Zeman J, Chabrol B, Kölker S; additional individual contributors of the E-IMD consortium. Heringer J, et al. Among authors: walter jh. J Inherit Metab Dis. 2016 May;39(3):341-353. doi: 10.1007/s10545-015-9907-8. Epub 2015 Dec 21. J Inherit Metab Dis. 2016. PMID: 26689403

7

Strategies for the treatment of cystathionine beta-synthase deficiency: the experience of the Willink Biochemical Genetics Unit over the past 30 years.

Walter JH, Wraith JE, White FJ, Bridge C, Till J. Walter JH, et al. Eur J Pediatr. 1998 Apr;157 Suppl 2:S71-6. doi: 10.1007/pl00014308. Eur J Pediatr. 1998. PMID: 9587030

8

Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.

Posset R, Garcia-Cazorla A, Valayannopoulos V, Teles EL, Dionisi-Vici C, Brassier A, Burlina AB, Burgard P, Cortès-Saladelafont E, Dobbelaere D, Couce ML, Sykut-Cegielska J, Häberle J, Lund AM, Chakrapani A, Schiff M, Walter JH, Zeman J, Vara R, Kölker S; Additional individual contributors of the E-IMD consortium. Posset R, et al. Among authors: walter jh. J Inherit Metab Dis. 2016 Sep;39(5):661-672. doi: 10.1007/s10545-016-9938-9. Epub 2016 Apr 22. J Inherit Metab Dis. 2016. PMID: 27106216

9

Bloodspot acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort study.

Walter JH, Patterson A, Till J, Besley GT, Fleming G, Henderson MJ. Walter JH, et al. J Inherit Metab Dis. 2009 Feb;32(1):95-101. doi: 10.1007/s10545-008-1047-y. Epub 2009 Jan 13. J Inherit Metab Dis. 2009. PMID: 19191006

10

Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants.

Vijay S, Patterson A, Olpin S, Henderson MJ, Clark S, Day C, Savill G, Walter JH. Vijay S, et al. Among authors: walter jh. J Inherit Metab Dis. 2006 Oct;29(5):627-30. doi: 10.1007/s10545-006-0376-y. Epub 2006 Jul 23. J Inherit Metab Dis. 2006. PMID: 16865412

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