Works matching IS 01418955 AND DT 2013 AND VI 36 AND IP 2
Results: 22
Diagnosing mucopolysaccharidosis IVA.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 293, doi. 10.1007/s10545-013-9587-1
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- Publication type:
- Article
Endothelial function in children and adolescents with mucopolysaccharidosis.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 221, doi. 10.1007/s10545-011-9438-x
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- Publication type:
- Article
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 179, doi. 10.1007/s10545-012-9533-7
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- Article
Heparan sulfate derived disaccharides in plasma and total urinary excretion of glycosaminoglycans correlate with disease severity in Sanfilippo disease.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 271, doi. 10.1007/s10545-012-9535-5
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- Article
Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 309, doi. 10.1007/s10545-012-9459-0
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- 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.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 247, doi. 10.1007/s10545-012-9538-2
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- Publication type:
- Article
Mucopolysaccharidosis: Cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 227, doi. 10.1007/s10545-011-9444-z
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- Publication type:
- Article
MRI morphometric characterisation of the paediatric cervical spine and spinal cord in children with MPS IVA (Morquio-Brailsford syndrome).
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 329, doi. 10.1007/s10545-013-9585-3
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- Publication type:
- Article
Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VII.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 235, doi. 10.1007/s10545-012-9522-x
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- 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.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 189, doi. 10.1007/s10545-012-9572-0
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- Publication type:
- Article
Management of mucopolysaccharidosis type IH (Hurler's syndrome) presenting in infancy with severe dilated cardiomyopathy: a single institution's experience.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 263, doi. 10.1007/s10545-012-9500-3
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- Publication type:
- Article
Anaesthesia and airway management in mucopolysaccharidosis.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 211, doi. 10.1007/s10545-012-9563-1
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- Publication type:
- Article
Respiratory and sleep disorders in mucopolysaccharidosis.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 201, doi. 10.1007/s10545-012-9555-1
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- 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).
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 281, doi. 10.1007/s10545-012-9558-y
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- Publication type:
- Article
Intellectual and neurological functioning in Morquio syndrome (MPS IVa).
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 323, doi. 10.1007/s10545-011-9430-5
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- Publication type:
- Article
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme) therapy.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 385, doi. 10.1007/s10545-012-9481-2
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- Publication type:
- Article
Mucopolysaccharidoses (MPS).
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- 2013
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- Publication type:
- Editorial
Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VI.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 357, doi. 10.1007/s10545-012-9559-x
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- Publication type:
- Article
Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP).
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 373, doi. 10.1007/s10545-011-9410-9
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- Publication type:
- Article
Characterisation of the T cell and dendritic cell repertoire in a murine model of mucopolysaccharidosis I (MPS I).
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 257, doi. 10.1007/s10545-012-9508-8
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- Publication type:
- Article
Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 363, doi. 10.1007/s10545-012-9521-y
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- Publication type:
- Article
Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 339, doi. 10.1007/s10545-013-9586-2
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- Publication type:
- Article