Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
51 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Brain. 2010 Mar;133(Pt 3):655-70. doi: 10.1093/brain/awp336. Epub 2010 Feb 2.
Brain. 2010.
PMID: 20129935
Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases.
Lundy CT, Jungbluth H, Pohl KR, Siddiqui A, Marinaki AM, Mundy H, Champion MP.
Lundy CT, et al. Among authors: mundy h.
Pediatr Neurol. 2010 Nov;43(5):351-4. doi: 10.1016/j.pediatrneurol.2010.06.007.
Pediatr Neurol. 2010.
PMID: 20933180
Item in Clipboard
A pilot longitudinal study of the use of waxy maize heat modified starch in the treatment of adults with glycogen storage disease type I: a randomized double-blind cross-over study.
Bhattacharya K, Mundy H, Lilburn MF, Champion MP, Morley DW, Maillot F.
Bhattacharya K, et al. Among authors: mundy h.
Orphanet J Rare Dis. 2015 Feb 15;10:18. doi: 10.1186/s13023-015-0229-6.
Orphanet J Rare Dis. 2015.
PMID: 25758258
Free PMC article.
Clinical Trial.
Item in Clipboard
Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.
Khaikin Y, Sidky S, Abdenur J, Anastasi A, Ballhausen D, Buoni S, Chan A, Cheillan D, Dorison N, Goldenberg A, Goldstein J, Hofstede FC, Jacquemont ML, Koeberl DD, Lion-Francois L, Lund AM, Mention K, Mundy H, O'Rourke D, Pitelet G, Raspall-Chaure M, Tassini M, Billette de Villemeur T, Williams M, Salomons GS, Mercimek-Andrews S.
Khaikin Y, et al. Among authors: mundy h.
Eur J Paediatr Neurol. 2018 May;22(3):369-379. doi: 10.1016/j.ejpn.2018.02.007. Epub 2018 Feb 16.
Eur J Paediatr Neurol. 2018.
PMID: 29506905
Item in Clipboard
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
Huemer M, Diodato D, Martinelli D, Olivieri G, Blom H, Gleich F, Kölker S, Kožich V, Morris AA, Seifert B, Froese DS, Baumgartner MR, Dionisi-Vici C; EHOD consortium; Martin CA, Baethmann M, Ballhausen D, Blasco-Alonso J, Boy N, Bueno M, Burgos Peláez R, Cerone R, Chabrol B, Chapman KA, Couce ML, Crushell E, Dalmau Serra J, Diogo L, Ficicioglu C, García Jimenez MC, García Silva MT, Gaspar AM, Gautschi M, González-Lamuño D, Gouveia S, Grünewald S, Hendriksz C, Janssen MCH, Jesina P, Koch J, Konstantopoulou V, Lavigne C, Lund AM, Martins EG, Meavilla Olivas S, Mention K, Mochel F, Mundy H, Murphy E, Paquay S, Pedrón-Giner C, Ruiz Gómez MA, Santra S, Schiff M, Schwartz IV, Scholl-Bürgi S, Servais A, Skouma A, Tran C, Vives Piñera I, Walter J, Weisfeld-Adams J.
Huemer M, et al. Among authors: mundy h.
J Inherit Metab Dis. 2019 Mar;42(2):333-352. doi: 10.1002/jimd.12041. Epub 2019 Feb 17.
J Inherit Metab Dis. 2019.
PMID: 30773687
Item in Clipboard
A child presenting with disordered consciousness, hallucinations, screaming episodes and abdominal pain.
Hussain K, Mundy H, Aynsley-Green A, Champion M.
Hussain K, et al. Among authors: mundy h.
Eur J Pediatr. 2002 Feb;161(2):127-9. doi: 10.1007/x00431-001-0862-z.
Eur J Pediatr. 2002.
PMID: 11954752
No abstract available.
Item in Clipboard
A novel starch for the treatment of glycogen storage diseases.
Bhattacharya K, Orton RC, Qi X, Mundy H, Morley DW, Champion MP, Eaton S, Tester RF, Lee PJ.
Bhattacharya K, et al. Among authors: mundy h.
J Inherit Metab Dis. 2007 Jun;30(3):350-7. doi: 10.1007/s10545-007-0479-0. Epub 2007 May 19.
J Inherit Metab Dis. 2007.
PMID: 17514432
Clinical Trial.
Item in Clipboard
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.
Oláhová M, Hardy SA, Hall J, Yarham JW, Haack TB, Wilson WC, Alston CL, He L, Aznauryan E, Brown RM, Brown GK, Morris AA, Mundy H, Broomfield A, Barbosa IA, Simpson MA, Deshpande C, Moeslinger D, Koch J, Stettner GM, Bonnen PE, Prokisch H, Lightowlers RN, McFarland R, Chrzanowska-Lightowlers ZM, Taylor RW.
Oláhová M, et al. Among authors: mundy h.
Brain. 2015 Dec;138(Pt 12):3503-19. doi: 10.1093/brain/awv291. Epub 2015 Oct 27.
Brain. 2015.
PMID: 26510951
Free PMC article.
Item in Clipboard
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: mundy h.
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.
Item in Clipboard
Natural History of Vanishing White Matter.
Hamilton EMC, van der Lei HDW, Vermeulen G, Gerver JAM, Lourenço CM, Naidu S, Mierzewska H, Gemke RJBJ, de Vet HCW, Uitdehaag BMJ, Lissenberg-Witte BI; VWM Research Group; van der Knaap MS.
Hamilton EMC, et al.
Ann Neurol. 2018 Aug;84(2):274-288. doi: 10.1002/ana.25287. Epub 2018 Sep 6.
Ann Neurol. 2018.
PMID: 30014503
Free PMC article.
Item in Clipboard
Cite
51
results
Cite