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Items: 1 to 20 of 31


Neuroradiological findings in three cases of pontocerebellar hypoplasia type 9 due to AMPD2 mutation: typical MRI appearances and pearls for differential diagnosis.

Scola E, Ganau M, Robinson R, Cleary M, De Cocker LJL, Mankad K, Triulzi F, D'Arco F.

Quant Imaging Med Surg. 2019 Dec;9(12):1966-1972. doi: 10.21037/qims.2019.08.12.


Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment.

Baruteau J, Khalil Y, Grunewald S, Zancolli M, Chakrapani A, Cleary M, Davison J, Footitt E, Waddington SN, Gissen P, Mills P.

Metabolites. 2019 Nov 12;9(11). pii: E275. doi: 10.3390/metabo9110275.


The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.

Keshavan N, Abdenur J, Anderson G, Assouline Z, Barcia G, Bouhikbar L, Chakrapani A, Cleary M, Cohen MC, Feillet F, Fratter C, Hauser N, Jacques T, Lam A, McCullagh H, Phadke R, Rötig A, Sharrard M, Simon M, Smith C, Sommerville EW, Taylor RW, Yue WW, Rahman S.

Genet Med. 2020 Jan;22(1):199-209. doi: 10.1038/s41436-019-0613-z. Epub 2019 Aug 29.


Free urinary glycosylated hydroxylysine as an indicator of altered collagen degradation in the mucopolysaccharidoses.

Patel N, Mills P, Davison J, Cleary M, Gissen P, Banushi B, Doykov I, Dorman M, Mills K, Heywood WE.

J Inherit Metab Dis. 2019 Aug 26. doi: 10.1002/jimd.12166. [Epub ahead of print]


Fucosidosis mimicking juvenile idiopathic arthritis.

Wynne E, Wynne K, Cleary M, Brogan PA.

Rheumatol Adv Pract. 2018 Oct 3;2(2):rky040. doi: 10.1093/rap/rky040. eCollection 2018. No abstract available.


Germline selection shapes human mitochondrial DNA diversity.

Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, Floto RA, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell NW, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AOM, Williamson C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot, Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF.

Science. 2019 May 24;364(6442). pii: eaau6520. doi: 10.1126/science.aau6520. Epub 2019 May 23.


Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial.

Wijburg FA, Whitley CB, Muenzer J, Gasperini S, Del Toro M, Muschol N, Cleary M, Sevin C, Shapiro E, Bhargava P, Kerr D, Alexanderian D.

Mol Genet Metab. 2019 Feb;126(2):121-130. doi: 10.1016/j.ymgme.2018.10.006. Epub 2018 Oct 24.


International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.

Parini R, Broomfield A, Cleary MA, De Meirleir L, Di Rocco M, Fathalla WM, Guffon N, Lampe C, Lund AM, Scarpa M, Tylki-Szymańska A, Zeman J.

Acta Paediatr. 2018 Dec;107(12):2059-2065. doi: 10.1111/apa.14587. Epub 2018 Oct 23. Review.


An Evidence-based Approach to the Management of Children With Morquio A Syndrome Presenting With Craniocervical Pathology.

Williams N, Narducci A, Eastwood DM, Cleary M, Thompson D.

Spine (Phila Pa 1976). 2018 Dec 15;43(24):E1443-E1453. doi: 10.1097/BRS.0000000000002743.


Fifteen-minute consultation: Red flags for metabolic disease in routine bloods.

Hart C, Davison JE, Cleary MA.

Arch Dis Child Educ Pract Ed. 2019 Feb;104(1):16-19. doi: 10.1136/archdischild-2017-313886. Epub 2018 May 19. No abstract available.


Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B.

Whitley CB, Cleary M, Eugen Mengel K, Harmatz P, Shapiro E, Nestrasil I, Haslett P, Whiteman D, Alexanderian D.

J Pediatr. 2018 Jun;197:198-206.e2. doi: 10.1016/j.jpeds.2018.01.044. Epub 2018 Apr 13.


Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III.

Ghosh A, Shapiro E, Rust S, Delaney K, Parker S, Shaywitz AJ, Morte A, Bubb G, Cleary M, Bo T, Lavery C, Bigger BW, Jones SA.

Orphanet J Rare Dis. 2017 Jun 26;12(1):117. doi: 10.1186/s13023-017-0675-4.


Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial.

Muntau AC, Burlina A, Eyskens F, Freisinger P, De Laet C, Leuzzi V, Rutsch F, Sivri HS, Vijay S, Bal MO, Gramer G, Pazdírková R, Cleary M, Lotz-Havla AS, Munafo A, Mould DR, Moreau-Stucker F, Rogoff D.

Orphanet J Rare Dis. 2017 Mar 9;12(1):47. doi: 10.1186/s13023-017-0600-x.


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.

J Inherit Metab Dis. 2017 May;40(3):357-368. doi: 10.1007/s10545-017-0022-x. Epub 2017 Mar 1.


Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.

Reid ES, Papandreou A, Drury S, Boustred C, Yue WW, Wedatilake Y, Beesley C, Jacques TS, Anderson G, Abulhoul L, Broomfield A, Cleary M, Grunewald S, Varadkar SM, Lench N, Rahman S, Gissen P, Clayton PT, Mills PB.

Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.


Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease.

Swift G, Cleary M, Grunewald S, Lozano S, Ryan M, Davison J.

JIMD Rep. 2017;33:11-17. doi: 10.1007/8904_2016_576. Epub 2016 Jun 26.


Thickening of the optic nerves in metachromatic leucodystrophy: A new MRI finding.

Roi D, Mankad K, Kaliakatsos M, Cleary M, Manzur A, D'Arco F.

Neuroradiol J. 2016 Apr;29(2):134-6. doi: 10.1177/1971400916633479. Epub 2016 Feb 25.


Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI.

Heywood WE, Camuzeaux S, Doykov I, Patel N, Preece RL, Footitt E, Cleary M, Clayton P, Grunewald S, Abulhoul L, Chakrapani A, Sebire NJ, Hindmarsh P, de Koning TJ, Heales S, Burke D, Gissen P, Mills K.

Anal Chem. 2015 Dec 15;87(24):12238-44. doi: 10.1021/acs.analchem.5b03232. Epub 2015 Nov 20.


Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6.

Reid ES, Williams H, Stabej Ple Q, James C, Ocaka L, Bacchelli C, Footitt EJ, Boyd S, Cleary MA, Mills PB, Clayton PT.

JIMD Rep. 2016;27:79-84. doi: 10.1007/8904_2015_460. Epub 2015 Oct 8.


Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results.

Giżewska M, MacDonald A, Bélanger-Quintana A, Burlina A, Cleary M, Coşkun T, Feillet F, Muntau AC, Trefz FK, van Spronsen FJ, Blau N.

Eur J Pediatr. 2016 Feb;175(2):261-72. doi: 10.1007/s00431-015-2622-5. Epub 2015 Sep 8.

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