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Temporomandibular joint destruction in mucolipidosis type III necessitating gastrostomy insertion.
Published in:
2005
By:
- Zolkipli, Zarzuela;
- Noimark, Lee;
- Cleary, Maureen A.;
- Owens, Cathy;
- Vellodi, Ashok
Publication type:
journal article
DRIVING WITH DEMENTIA: THE NECESSITY OF A COMPREHENSIVE REPORTING SCHEME.
Published in:
Elder Law Journal, 2016, v. 24, n. 1, p. 151
By:
- Cleary, Maureen
Publication type:
Article
Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III.
Published in:
2017
By:
- Ghosh, Arunabha;
- Shapiro, Elsa;
- Rust, Stewart;
- Delaney, Kathleen;
- Parker, Samantha;
- Shaywitz, Adam J.;
- Morte, Adelaida;
- Bubb, Gillian;
- Cleary, Maureen;
- Tien Bo;
- Lavery, Christine;
- Bigger, Brian W.;
- Jones, Simon A.;
- Bo, Tien
Publication type:
journal article
Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial.
Published in:
2017
By:
- Muntau, Ania C.;
- Burlina, Alberto;
- Eyskens, François;
- Freisinger, Peter;
- De Laet, Corinne;
- Leuzzi, Vincenzo;
- Rutsch, Frank;
- Sivri, H. Serap;
- Vijay, Suresh;
- Bal, Milva Orquidea;
- Gramer, Gwendolyn;
- Pazdírková, Renata;
- Cleary, Maureen;
- Lotz-Havla, Amelie S.;
- Munafo, Alain;
- Mould, Diane R.;
- Moreau-Stucker, Flavie;
- Rogoff, Daniela
Publication type:
journal article
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
Published in:
2016
By:
- Reid, Emma S.;
- Papandreou, Apostolos;
- Drury, Suzanne;
- Boustred, Christopher;
- Yue, Wyatt W.;
- Wedatilake, Yehani;
- Beesley, Clare;
- Jacques, Thomas S.;
- Anderson, Glenn;
- Abulhoul, Lara;
- Broomfield, Alex;
- Cleary, Maureen;
- Grunewald, Stephanie;
- Varadkar, Sophia M.;
- Lench, Nick;
- Rahman, Shamima;
- Gissen, Paul;
- Clayton, Peter T.;
- Mills, Philippa B.
Publication type:
journal article
Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment.
Published in:
Metabolites (2218-1989), 2019, v. 9, n. 11, p. 275, doi. 10.3390/metabo9110275
By:
- Baruteau, Julien;
- Khalil, Youssef;
- Grunewald, Stephanie;
- Zancolli, Marta;
- Chakrapani, Anupam;
- Cleary, Maureen;
- Davison, James;
- Footitt, Emma;
- Waddington, Simon N.;
- Gissen, Paul;
- Mills, Philippa
Publication type:
Article
Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results.
Published in:
2016
By:
- Giżewska, Maria;
- MacDonald, Anita;
- Bélanger-Quintana, Amaya;
- Burlina, Alberto;
- Cleary, Maureen;
- Coşkun, Turgay;
- Feillet, François;
- Muntau, Ania;
- Trefz, Friedrich;
- Spronsen, Francjan;
- Blau, Nenad;
- Giżewska, Maria;
- Bélanger-Quintana, Amaya;
- Coşkun, Turgay;
- Feillet, François;
- Muntau, Ania C;
- Trefz, Friedrich K;
- van Spronsen, Francjan J
Publication type:
journal article
A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2334, doi. 10.1002/ajmg.a.36065
By:
- Shahni, RojeEN;
- Wedatilake, Yehani;
- Cleary, MaureEN A.;
- Lindley, Keith J.;
- Sibson, Keith R.;
- Rahman, Shamima
Publication type:
Article
Gastrointestinal Manifestations in Mucopolysaccharidosis Type III: Review of Death Certificates and the Literature.
Published in:
Journal of Clinical Medicine, 2021, v. 10, n. 19, p. 4445, doi. 10.3390/jcm10194445
By:
- Thomas, Sophie;
- Ramaswami, Uma;
- Cleary, Maureen;
- Yaqub, Medeah;
- Raebel, Eva M.
Publication type:
Article
Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency.
Published in:
Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 2, p. 123, doi. 10.1002/jmd2.12266
By:
- Keshavan, Nandaki;
- Wood, Michelle;
- Alderson, Lucy M.;
- Cortina‐Borja, Mario;
- Skeath, Rachel;
- McSweeney, Mel;
- Dixon, Marjorie;
- Cleary, Maureen A.;
- Footitt, Emma;
- Batzios, Spyros
Publication type:
Article
Earwax: A potentially useful medium to identify inborn errors of metabolism?
Published in:
Journal of Inherited Metabolic Disease Reports, 2020, v. 52, n. 1, p. 72, doi. 10.1002/jmd2.12102
By:
- Krywawych, Stefan;
- Cleary, Maureen;
- McSweeney, Mel;
- Heales, Simon
Publication type:
Article
Assessment of adult phenylketonuria.
Published in:
Annals of Clinical Biochemistry, 2001, v. 38, n. 5, p. 450, doi. 10.1258/0004563011901217
By:
- Cleary, Maureen;
- Walter, J. H.
Publication type:
Article
Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial.
Published in:
2021
By:
- Muntau, Ania C.;
- Burlina, Alberto;
- Eyskens, François;
- Freisinger, Peter;
- Leuzzi, Vincenzo;
- Sivri, Hatice Serap;
- Gramer, Gwendolyn;
- Pazdírková, Renata;
- Cleary, Maureen;
- Lotz-Havla, Amelia S.;
- Lane, Paul;
- Alvarez, Ignacio;
- Rutsch, Frank
Publication type:
journal article
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.
Published in:
Epilepsia (Series 4), 2023, v. 64, n. 6, p. 1612, doi. 10.1111/epi.17596
By:
- Elkhateeb, Nour;
- Olivieri, Giorgia;
- Siri, Barbara;
- Boyd, Stewart;
- Stepien, Karolina M.;
- Sharma, Reena;
- Morris, Andrew A. M.;
- Hartley, Thomas;
- Crowther, Laura;
- Grunewald, Stephanie;
- Cleary, Maureen;
- Mundy, Helen;
- Chakrapani, Anupam;
- Lachmann, Robin;
- Murphy, Elaine;
- Santra, Saikat;
- Uudelepp, Mari‐Liis;
- Yeo, Mildrid;
- Bernhardt, Isaac;
- Sudakhar, Sniya
Publication type:
Article
Impact of long-term elosulfase alfa treatment on clinical and patient-reported outcomes in patients with mucopolysaccharidosis type IVA: results from a Managed Access Agreement in England.
Published in:
2021
By:
- Cleary, Maureen;
- Davison, James;
- Gould, Rachel;
- Geberhiwot, Tarekegn;
- Hughes, Derralynn;
- Mercer, Jean;
- Morrison, Alexandra;
- Murphy, Elaine;
- Santra, Saikat;
- Jarrett, James;
- Mukherjee, Swati;
- Stepien, Karolina M.
Publication type:
journal article
Long‐term cognitive and psychosocial outcomes in adults with phenylketonuria.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1353, doi. 10.1002/jimd.12413
By:
- Aitkenhead, Lynne;
- Krishna, Gauri;
- Ellerton, Charlotte;
- Moinuddin, Md;
- Matcham, Jessica;
- Shiel, Lisha;
- Hossain, Shasoty;
- Kiffin, Marianne;
- Foley, Jennifer;
- Skeath, Rachel;
- Cleary, Maureen;
- Lachmann, Robin;
- Murphy, Elaine
Publication type:
Article
Free urinary glycosylated hydroxylysine as an indicator of altered collagen degradation in the mucopolysaccharidoses.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 309, doi. 10.1002/jimd.12166
By:
- Patel, Nina;
- Mills, Philippa;
- Davison, James;
- Cleary, Maureen;
- Gissen, Paul;
- Banushi, Blerida;
- Doykov, Ivan;
- Dorman, Megan;
- Mills, Kevin;
- Heywood, Wendy E.
Publication type:
Article
Expanding the phenotype in argininosuccinic aciduria: need for new therapies.
Published in:
Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 357, doi. 10.1007/s10545-017-0022-x
By:
- Baruteau, Julien;
- Jameson, Elisabeth;
- Morris, Andrew;
- Chakrapani, Anupam;
- Santra, Saikat;
- Vijay, Suresh;
- Kocadag, Huriye;
- Beesley, Clare;
- Grunewald, Stephanie;
- Murphy, Elaine;
- Cleary, Maureen;
- Mundy, Helen;
- Abulhoul, Lara;
- Broomfield, Alexander;
- Lachmann, Robin;
- Rahman, Yusof;
- Robinson, Peter;
- MacPherson, Lesley;
- Foster, Katharine;
- Chong, W.
Publication type:
Article
Clinical Genetics of Prolidase Deficiency: An Updated Review.
Published in:
Biology (2079-7737), 2020, v. 9, n. 5, p. 108, doi. 10.3390/biology9050108
By:
- Spodenkiewicz, Marta;
- Spodenkiewicz, Michel;
- Cleary, Maureen;
- Massier, Marie;
- Fitsialos, Giorgos;
- Cottin, Vincent;
- Jouret, Guillaume;
- Poirsier, Céline;
- Doco-Fenzy, Martine;
- Lèbre, Anne-Sophie
Publication type:
Article
Thickening of the optic nerves in metachromatic leucodystrophy: A new MRI finding.
Published in:
Neuroradiology Journal, 2016, v. 29, n. 2, p. 134, doi. 10.1177/1971400916633479
By:
- Roi, Dylan;
- Mankad, Kshitij;
- Kaliakatsos, Marios;
- Cleary, Maureen;
- Manzur, Adnan;
- D’Arco, Felice
Publication type:
Article
International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.
Published in:
2018
By:
- Parini, Rossella;
- Broomfield, Alexander;
- Cleary, Maureen A.;
- De Meirleir, Linda;
- Di Rocco, Maja;
- Fathalla, Waseem M.;
- Guffon, Nathalie;
- Lampe, Christina;
- Lund, Allan M.;
- Scarpa, Maurizio;
- Tylki‐Szymańska, Anna;
- Zeman, Jiří;
- Tylki-Szymańska, Anna
Publication type:
journal article

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