Works matching IS 01418955 AND DT 2013 AND VI 36 AND IP 2

Results: 22

Diagnosing mucopolysaccharidosis IVA.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 293, doi. 10.1007/s10545-013-9587-1

By:

Wood, Timothy;
Harvey, Katie;
Beck, Michael;
Burin, Maira;
Chien, Yin-Hsiu;
Church, Heather;
D'Almeida, Vânia;
Diggelen, Otto;
Fietz, Michael;
Giugliani, Roberto;
Harmatz, Paul;
Hawley, Sara;
Hwu, Wuh-Liang;
Ketteridge, David;
Lukacs, Zoltan;
Miller, Nicole;
Pasquali, Marzia;
Schenone, Andrea;
Thompson, Jerry;
Tylee, Karen

Publication type:

Article

Endothelial function in children and adolescents with mucopolysaccharidosis.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 221, doi. 10.1007/s10545-011-9438-x

By:

Kelly, Aaron;
Metzig, Andrea;
Steinberger, Julia;
Braunlin, Elizabeth

Publication type:

Article

Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 179, doi. 10.1007/s10545-012-9533-7

By:

Pollard, Laura;
Jones, Julie;
Wood, Tim

Publication type:

Article

Heparan sulfate derived disaccharides in plasma and total urinary excretion of glycosaminoglycans correlate with disease severity in Sanfilippo disease.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 271, doi. 10.1007/s10545-012-9535-5

By:

Ruijter, J.;
IJlst, L.;
Kulik, W.;
Lenthe, H.;
Wagemans, T.;
Vlies, N.;
Wijburg, F.

Publication type:

Article

Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 309, doi. 10.1007/s10545-012-9459-0

By:

Hendriksz, Christian;
Al-Jawad, Maisoon;
Berger, Kenneth;
Hawley, Sara;
Lawrence, Rebecca;
Mc Ardle, Ciarán;
Summers, C.;
Wright, Elizabeth;
Braunlin, Elizabeth

Publication type:

Article

Plasma and urinary levels of dermatan sulfate and heparan sulfate derived disaccharides after long-term enzyme replacement therapy (ERT) in MPS I: correlation with the timing of ERT and with total urinary excretion of glycosaminoglycans.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 247, doi. 10.1007/s10545-012-9538-2

By:

Ru, Minke;
Tol, Linda;
Vlies, Naomi;
Bigger, Brian;
Hollak, Carla;
IJlst, Lodewijk;
Kulik, Wim;
Lenthe, Henk;
Saif, Muhammad;
Wagemans, Tom;
Wal, Willem;
Wanders, Ronald;
Wijburg, Frits

Publication type:

Article

Mucopolysaccharidosis: Cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 227, doi. 10.1007/s10545-011-9444-z

By:

Brands, Marion;
Frohn-Mulder, Ingrid;
Hagemans, Marloes;
Hop, Wim;
Oussoren, Esmee;
Helbing, Wim;
Ploeg, Ans

Publication type:

Article

MRI morphometric characterisation of the paediatric cervical spine and spinal cord in children with MPS IVA (Morquio-Brailsford syndrome).

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 329, doi. 10.1007/s10545-013-9585-3

By:

Solanki, Guirish;
Lo, William;
Hendriksz, Christian

Publication type:

Article

Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VII.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 235, doi. 10.1007/s10545-012-9522-x

By:

Rowan, Daniel;
Tomatsu, Shunji;
Grubb, Jeffrey;
Montaño, Adriana;
Sly, William

Publication type:

Article

Behavioural phenotypes of the mucopolysaccharide disorders: a systematic literature review of cognitive, motor, social, linguistic and behavioural presentation in the MPS disorders.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 189, doi. 10.1007/s10545-012-9572-0

By:

Cross, E.;
Hare, D.

Publication type:

Article

Management of mucopolysaccharidosis type IH (Hurler's syndrome) presenting in infancy with severe dilated cardiomyopathy: a single institution's experience.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 263, doi. 10.1007/s10545-012-9500-3

By:

Wiseman, Daniel;
Mercer, Jean;
Tylee, Karen;
Malaiya, Nilima;
Bonney, Denise;
Jones, Simon;
Wraith, J;
Wynn, Robert

Publication type:

Article

Anaesthesia and airway management in mucopolysaccharidosis.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 211, doi. 10.1007/s10545-012-9563-1

By:

Walker, Robert;
Belani, Kumar;
Braunlin, Elizabeth;
Bruce, Iain;
Hack, Henrik;
Harmatz, Paul;
Jones, Simon;
Rowe, Richard;
Solanki, Guirish;
Valdemarsson, Barbara

Publication type:

Article

Respiratory and sleep disorders in mucopolysaccharidosis.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 201, doi. 10.1007/s10545-012-9555-1

By:

Berger, Kenneth;
Fagondes, Simone;
Giugliani, Roberto;
Hardy, Karen;
Lee, Kuo;
McArdle, Ciarán;
Scarpa, Maurizio;
Tobin, Martin;
Ward, Susan;
Rapoport, David

Publication type:

Article

Parental social support, coping strategies, resilience factors, stress, anxiety and depression levels in parents of children with MPS III (Sanfilippo syndrome) or children with intellectual disabilities (ID).

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 281, doi. 10.1007/s10545-012-9558-y

By:

Grant, Sheena;
Cross, Elaine;
Wraith, James;
Jones, Simon;
Mahon, Louise;
Lomax, Michelle;
Bigger, Brian;
Hare, Dougal

Publication type:

Article

Intellectual and neurological functioning in Morquio syndrome (MPS IVa).

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 323, doi. 10.1007/s10545-011-9430-5

By:

Davison, J.;
Kearney, S.;
Horton, J.;
Foster, K.;
Peet, A.;
Hendriksz, C.

Publication type:

Article

Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme) therapy.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 385, doi. 10.1007/s10545-012-9481-2

By:

Braunlin, E.;
Rosenfeld, H.;
Kampmann, C.;
Johnson, J.;
Beck, M.;
Giugliani, R.;
Guffon, N.;
Ketteridge, D.;
Sá Miranda, C.;
Scarpa, M.;
Schwartz, I.;
Leão Teles, E.;
Wraith, J.;
Barrios, P.;
Dias da Silva, E.;
Kurio, G.;
Richardson, M.;
Gildengorin, G.;
Hopwood, J.;
Imperiale, M.

Publication type:

Article

Mucopolysaccharidoses (MPS).

Published in:

2013

By:

Hendriksz, Christian

Publication type:

Editorial

Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VI.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 357, doi. 10.1007/s10545-012-9559-x

By:

Azevedo, Ana;
Artigalás, Osvaldo;
Vedolin, Leonardo;
Komlós, Márcia;
Pires, Adriana;
Giugliani, Roberto;
Schwartz, Ida

Publication type:

Article

Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP).

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 373, doi. 10.1007/s10545-011-9410-9

By:

Hendriksz, Christian;
Giugliani, Roberto;
Harmatz, Paul;
Lampe, Christina;
Martins, Ana;
Pastores, Gregory;
Steiner, Robert;
Leão Teles, Elisa;
Valayannopoulos, Vassili

Publication type:

Article

Characterisation of the T cell and dendritic cell repertoire in a murine model of mucopolysaccharidosis I (MPS I).

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 257, doi. 10.1007/s10545-012-9508-8

By:

Archer, Louise;
Langford-Smith, Kia;
Critchley, William;
Bigger, Brian;
Fildes, James

Publication type:

Article

Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 363, doi. 10.1007/s10545-012-9521-y

By:

Bartolomeo, Rosa;
Polishchuk, Elena;
Volpi, Nicola;
Polishchuk, Roman;
Auricchio, Alberto

Publication type:

Article

Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 339, doi. 10.1007/s10545-013-9586-2

By:

Solanki, Guirish;
Martin, Kenneth;
Theroux, Mary;
Lampe, Christina;
White, Klane;
Shediac, Renée;
Lampe, Christian;
Beck, Michael;
Mackenzie, William;
Hendriksz, Christian;
Harmatz, Paul

Publication type:

Article