Works matching IS 01418955 AND DT 2011 AND VI 34 AND IP 5
Results: 15
Burden of illness of Pompe disease in patients only receiving supportive care.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1045, doi. 10.1007/s10545-011-9320-x
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- Article
Genistein supplementation in patients affected by Sanfilippo disease.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1039, doi. 10.1007/s10545-011-9342-4
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- Article
Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1029, doi. 10.1007/s10545-011-9336-2
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- Article
Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1083, doi. 10.1007/s10545-011-9323-7
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- Article
Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1069, doi. 10.1007/s10545-011-9351-3
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- Article
Cell microencapsulation: a potential tool for the treatment of neuronopathic lysosomal storage diseases.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 983, doi. 10.1007/s10545-011-9350-4
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- Article
Proton nuclear magnetic resonance spectroscopic detection of oligomannosidic n glycans in alpha-mannosidosis: a method of monitoring treatment.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1023, doi. 10.1007/s10545-011-9331-7
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- Article
Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1075, doi. 10.1007/s10545-011-9346-0
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- Article
A complete deficiency of Hyaluronoglucosaminidase 1 ( HYAL1) presenting as familial juvenile idiopathic arthritis.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1013, doi. 10.1007/s10545-011-9343-3
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- Article
Emerging therapies for neurodegenerative lysosomal storage disorders - from concept to reality.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1003, doi. 10.1007/s10545-011-9341-5
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- Article
Thymic involution and corticosterone level in Sandhoff disease model mice: new aspects the pathogenesis of GM2 gangliosidosis.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1061, doi. 10.1007/s10545-011-9316-6
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- Article
Four-year follow-up of chronic neuronopathic Gaucher disease in Europeans using a modified severity scoring tool.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1053, doi. 10.1007/s10545-011-9347-z
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- Article
Synovium, synergy and serendipity.
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- 2011
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- Publication type:
- Editorial
Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1095, doi. 10.1007/s10545-011-9361-1
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- Publication type:
- Article
Gastrointestinal disturbances and their management in miglustat-treated patients.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 991, doi. 10.1007/s10545-011-9368-7
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- Publication type:
- Article