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LYSOSOMAL ACID LIPASE DEFICIENCY: WOLMAN DISEASE AND CHOLESTERYL ESTER STORAGE DISEASE.
- Published in:
- Contributions / Prilozi (1857-9345), 2014, v. 35, n. 1, p. 99
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- Publication type:
- Article
Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe.
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- Pediatrics International, 2014, v. 56, n. 4, p. 520, doi. 10.1111/ped.12281
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- Publication type:
- Article
Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature.
- Published in:
- 2012
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- Publication type:
- journal article
Patient and caregiver experiences with pantothenate kinase-associated neurodegeneration (PKAN): results from a patient community survey.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02869-1
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- Publication type:
- Article
Restricted joint range of motion in patients with MPS II: correlation with height, age and functional status.
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- Acta Paediatrica, 2012, v. 101, n. 4, p. e183, doi. 10.1111/j.1651-2227.2011.02522.x
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- Publication type:
- Article
Growth pattern and growth prediction of body height in children with mucopolysaccharidosis type II.
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- Acta Paediatrica, 2011, v. 100, n. 3, p. 456, doi. 10.1111/j.1651-2227.2010.02060.x
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- Publication type:
- Article
Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature.
- Published in:
- Clinical Rheumatology, 2014, v. 33, n. 5, p. 725, doi. 10.1007/s10067-013-2423-z
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- Publication type:
- Article
Cervical Spine MRI Findings in Patients with Mucopolysaccharidosis Type II.
- Published in:
- Pediatric Neurosurgery, 2015, v. 50, n. 1, p. 26, doi. 10.1159/000371658
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- Publication type:
- Article
Spinal Cord Compression in Maroteaux-Lamy Syndrome: Case Report and Review of the Literature with Effects of Enzyme Replacement Therapy.
- Published in:
- Pediatric Neurosurgery, 2013, v. 48, n. 3, p. 191, doi. 10.1159/000345635
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- Publication type:
- Article
Ultrasonographic Features of Hip Joints in Mucopolysaccharidoses Type I and II.
- Published in:
- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0123792
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- Publication type:
- Article
The Effect of Recombinant Human Iduronate-2-Sulfatase (Idursulfase) on Growth in Young Patients with Mucopolysaccharidosis Type II.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0085074
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- Publication type:
- Article
Biomarkers for drug development in propionic and methylmalonic acidemias.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 132, doi. 10.1002/jimd.12478
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- Publication type:
- Article
Adenylosuccinate lyase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 2, p. 231, doi. 10.1007/s10545-014-9755-y
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- Publication type:
- Article
Clinical manifestations and management of fatty acid oxidation disorders.
- Published in:
- Reviews in Endocrine & Metabolic Disorders, 2020, v. 21, n. 4, p. 479, doi. 10.1007/s11154-020-09568-3
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- Publication type:
- Article
Bone metabolism in patients with mucopolysaccharidosis type II.
- Published in:
- Rheumatology / Reumatologia, 2014, v. 52, n. 6, p. 354, doi. 10.5114/reum.2014.47228
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- Publication type:
- Article
Study design challenges and strategies in clinical trials for rare diseases: Lessons learned from pantothenate kinase-associated neurodegeneration.
- Published in:
- Frontiers in Neurology, 2023, v. 14, p. 01, doi. 10.3389/fneur.2023.1098454
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- Publication type:
- Article
Mucopolysaccharidosis type VI: A predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene Mucopolysaccharidosis Type VI: A Predominantly Cardiac Phenotype Associated With Homozygosity for p.R152W Mutation in the ARSB Gene
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1291, doi. 10.1002/ajmg.a.35905
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- Publication type:
- Article
Mucopolysaccharidosis type II in females and response to enzyme replacement therapy.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 450, doi. 10.1002/ajmg.a.34415
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- Publication type:
- Article
Neurologic Presentation, Diagnostics, and Therapeutic Insights in a Severe Case of Adenylosuccinate Lyase Deficiency.
- Published in:
- 2012
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- Publication type:
- Case Study
DIAGNOSTYKA I POSTĘPOWANIE TERAPEUTYCZNE U DZIECI Z MUKOPOLISACHARYDOZĄ TYPU VI.
- Published in:
- Przeglad Pediatryczny, 2012, v. 42, n. 3, p. 149
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- Publication type:
- Article
DEFICYT FOSFORYBOZYLOTRANSFERAZY HIPOKSANTYNOGUANINOWEJ - KLINICZNA, BIOCHEMICZNA ORAZ MOLEKULARNA CHARAKTERYSTYKA PACJENTÓW.
- Published in:
- Przeglad Pediatryczny, 2008, v. 38, n. 3, p. 227
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- Publication type:
- Article
Aminoacylase 1 deficiency associated with autistic behavior.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 211, doi. 10.1007/s10545-010-9089-3
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- Publication type:
- Article
Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78‐year‐old patient.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 21, doi. 10.1007/s10545-009-9011-z
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- Publication type:
- Article
Efficacy of recombinant human α- L-iduronidase (laronidase) on restricted range of motion of upper extremities in mucopolysaccharidosis type I patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 2, p. 151, doi. 10.1007/s10545-010-9059-9
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- Publication type:
- Article
Growth patterns in children with mucopolysaccharidosis I and II.
- Published in:
- World Journal of Pediatrics, 2015, v. 11, n. 3, p. 226, doi. 10.1007/s12519-014-0517-6
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- Publication type:
- Article