Lachmann R - Search Results

1

Expanding the phenotype in argininosuccinic aciduria: need for new therapies.

Baruteau J, Jameson E, Morris AA, Chakrapani A, Santra S, Vijay S, Kocadag H, Beesley CE, Grunewald S, Murphy E, Cleary M, Mundy H, Abulhoul L, Broomfield A, Lachmann R, Rahman Y, Robinson PH, MacPherson L, Foster K, Chong WK, Ridout DA, Bounford KM, Waddington SN, Mills PB, Gissen P, Davison JE. Baruteau J, et al. Among authors: lachmann r. J Inherit Metab Dis. 2017 May;40(3):357-368. doi: 10.1007/s10545-017-0022-x. Epub 2017 Mar 1. J Inherit Metab Dis. 2017. PMID: 28251416 Free PMC article.

2

Long-term needs of adult patients with organic acidaemias: outcome and prognostic factors.

Martín-Hernández E, Lee PJ, Micciche A, Grunewald S, Lachmann RH. Martín-Hernández E, et al. Among authors: lachmann rh. J Inherit Metab Dis. 2009 Aug;32(4):523-33. doi: 10.1007/s10545-009-1191-12. Epub 2009 Jul 23. J Inherit Metab Dis. 2009. PMID: 19629744

3

Dietary modifications in patients receiving miglustat.

Champion H, Ramaswami U, Imrie J, Lachmann RH, Gallagher J, Cox TM, Wraith JE. Champion H, et al. Among authors: lachmann rh. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S379-83. doi: 10.1007/s10545-010-9193-4. Epub 2010 Sep 16. J Inherit Metab Dis. 2010. PMID: 20844964

4

Dietary treatment of phenylketonuria: the effect of phenylalanine on reaction time.

Dawson C, Murphy E, Maritz C, Chan H, Ellerton C, Carpenter RH, Lachmann RH. Dawson C, et al. Among authors: lachmann rh. J Inherit Metab Dis. 2011 Apr;34(2):449-54. doi: 10.1007/s10545-010-9276-2. Epub 2011 Feb 3. J Inherit Metab Dis. 2011. PMID: 21290182

5

Movement disorders in adult surviving patients with maple syrup urine disease.

Carecchio M, Schneider SA, Chan H, Lachmann R, Lee PJ, Murphy E, Bhatia KP. Carecchio M, et al. Among authors: lachmann r. Mov Disord. 2011 Jun;26(7):1324-8. doi: 10.1002/mds.23629. Epub 2011 Apr 11. Mov Disord. 2011. PMID: 21484869 Free PMC article.

6

Incidence and predictors of anti-bradycardia pacing in patients with Anderson-Fabry disease.

O'Mahony C, Coats C, Cardona M, Garcia A, Calcagnino M, Murphy E, Lachmann R, Mehta A, Hughes D, Elliott PM. O'Mahony C, et al. Among authors: lachmann r. Europace. 2011 Dec;13(12):1781-8. doi: 10.1093/europace/eur267. Epub 2011 Aug 18. Europace. 2011. PMID: 21856674

7

A series of pregnancies in women with inherited metabolic disease.

Langendonk JG, Roos JC, Angus L, Williams M, Karstens FP, de Klerk JB, Maritz C, Ben-Omran T, Williamson C, Lachmann RH, Murphy E. Langendonk JG, et al. J Inherit Metab Dis. 2012 May;35(3):419-24. doi: 10.1007/s10545-011-9389-2. Epub 2011 Sep 15. J Inherit Metab Dis. 2012. PMID: 21918856

8

Pregnancy and its management in women with GSD type III - a single centre experience.

Ramachandran R, Wedatilake Y, Coats C, Walker F, Elliott P, Lee PJ, Lachmann RH, Murphy E. Ramachandran R, et al. Among authors: lachmann rh. J Inherit Metab Dis. 2012 Mar;35(2):245-51. doi: 10.1007/s10545-011-9384-7. Epub 2011 Sep 7. J Inherit Metab Dis. 2012. PMID: 21947574

9

Role of serum N-terminal pro-brain natriuretic peptide measurement in diagnosis of cardiac involvement in patients with anderson-fabry disease.

Coats CJ, Parisi V, Ramos M, Janagarajan K, O'Mahony C, Dawnay A, Lachmann RH, Murphy E, Mehta A, Hughes D, Elliott PM. Coats CJ, et al. Am J Cardiol. 2013 Jan 1;111(1):111-7. doi: 10.1016/j.amjcard.2012.08.055. Epub 2012 Oct 4. Am J Cardiol. 2013. PMID: 23040658

10

Atypical parkinsonism and cerebrotendinous xanthomatosis: report of a family with corticobasal syndrome and a literature review.

Rubio-Agusti I, Kojovic M, Edwards MJ, Murphy E, Chandrashekar HS, Lachmann RH, Bhatia KP. Rubio-Agusti I, et al. Mov Disord. 2012 Dec;27(14):1769-74. doi: 10.1002/mds.25229. Epub 2012 Nov 2. Mov Disord. 2012. PMID: 23124517 Review.

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