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Importancia de los registros nacionales e internacionales de errores innatos del metabolismo.
- Published in:
- Acta Pediatrica de Mexico, 2012, v. 33, n. 6, p. 329
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- Publication type:
- Article
Aortic root dilatation in patients with mucopolysaccharidoses and the impact of enzyme replacement therapy.
- Published in:
- Heart & Vessels, 2019, v. 34, n. 2, p. 290, doi. 10.1007/s00380-018-1242-1
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- Publication type:
- Article
The Inflammation in the Cytopathology of Patients With Mucopolysaccharidoses- Immunomodulatory Drugs as an Approach to Therapy.
- Published in:
- Frontiers in Pharmacology, 2022, v. 13, p. 1, doi. 10.3389/fphar.2022.863667
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- Publication type:
- Article
Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry.
- Published in:
- European Journal of Pediatrics, 2012, v. 171, n. 6, p. 911, doi. 10.1007/s00431-011-1644-x
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- Publication type:
- Article
Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls.
- Published in:
- European Journal of Pediatrics, 2012, v. 171, n. 4, p. 631, doi. 10.1007/s00431-012-1703-y
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- Publication type:
- Article
The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus.
- Published in:
- 2012
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- Publication type:
- journal article
RETRACTED: Wiesinger et al. An Innovative Tool for Evidence-Based, Personalized Treatment Trials in Mucopolysaccharidosis. Pharmaceutics 2023, 15 , 1565.
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice
An Innovative Tool for Evidence-Based, Personalized Treatment Trials in Mucopolysaccharidosis.
- Published in:
- Pharmaceutics, 2023, v. 15, n. 5, p. 1565, doi. 10.3390/pharmaceutics15051565
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- Publication type:
- Article
Diagnostic and treatment strategies in mucopolysaccharidosis VI.
- Published in:
- Application of Clinical Genetics, 2015, v. 8, p. 245, doi. 10.2147/TACG.S68650
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- Publication type:
- Article
Aspartame loading test in PKU heterozygous individuals bearing severe and moderate mutations.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 1, p. 86, doi. 10.1034/j.1399-0004.2000.580118.x
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- Publication type:
- Article
Mucopolissacaridose tipo I em cão.
- Published in:
- Acta Scientiae Veterinariae, 2021, v. 49, p. 1, doi. 10.22456/1679-9216.110624
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- Publication type:
- Article
Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.
- Published in:
- 2017
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- Publication type:
- journal article
Minimal clinically important difference for the 6-min walk test: literature review and application to Morquio A syndrome.
- Published in:
- 2017
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- Publication type:
- journal article
Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism.
- Published in:
- 2016
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- Publication type:
- journal article
Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series.
- Published in:
- 2016
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- Publication type:
- journal article
A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 173, doi. 10.1186/s13023-014-0173-x
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- Publication type:
- Article
A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases.
- Published in:
- 2014
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- Publication type:
- journal article
Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2c linical studies.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 91, doi. 10.1186/1750-1172-7-91
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- Publication type:
- Article
Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review.
- Published in:
- 2010
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- Publication type:
- journal article
Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 14, doi. 10.1186/1750-1172-5-14
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- Publication type:
- Article
Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical Data.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 20, p. 10938, doi. 10.3390/ijms222010938
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- Publication type:
- Article
Gene Therapy for Neuronopathic Mucopolysaccharidoses: State of the Art.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 17, p. 9200, doi. 10.3390/ijms22179200
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- Publication type:
- Article
Recombinant Encapsulated Cells Overexpressing Alpha-L-Iduronidase Correct Enzyme Deficiency in Human Mucopolysaccharidosis Type I Cells.
- Published in:
- Cells Tissues Organs, 2012, v. 195, n. 4, p. 323, doi. 10.1159/000327532
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- Publication type:
- Article
Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.
- Published in:
- Journal of Human Genetics, 2004, v. 49, n. 9, p. 490, doi. 10.1007/s10038-004-0178-8
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- Publication type:
- Article
Newborn Screening for Congenital Infectious Disease.
- Published in:
- Emerging Infectious Diseases, 2004, v. 10, n. 6, p. 1069, doi. 10.3201/eid1006.030830
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- Publication type:
- Article
Encapsulated Whole Bone Marrow Cells Improve Survival in Wistar Rats after 90% Partial Hepatectomy.
- Published in:
- Thrombosis, 2015, p. 1, doi. 10.1155/2016/4831524
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- Publication type:
- Article
Clinical trials for genetic diseases in Latin America.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 3, p. 381, doi. 10.1002/ajmg.c.31934
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- Publication type:
- Article
Intellectual Disability in a Birth Cohort: Prevalence, Etiology, and Determinants at the Age of 4 Years.
- Published in:
- Public Health Genomics, 2016, v. 19, n. 5, p. 290, doi. 10.1159/000448912
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- Publication type:
- Article
Low‐pass whole genome sequencing as a cost‐effective alternative to chromosomal microarray analysis for low‐ and middle‐income countries.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63802
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- Publication type:
- Article
GM1‐gangliosidosis: The caregivers' assessments of symptom impact and most important symptoms to treat.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 408, doi. 10.1002/ajmg.a.63038
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- Publication type:
- Article
Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2929, doi. 10.1002/ajmg.a.62375
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- Publication type:
- Article
Oral, dental, and craniofacial features in chronic acid sphingomyelinase deficiency.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2891, doi. 10.1002/ajmg.a.61871
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- Publication type:
- Article
Estimated birth prevalence of mucopolysaccharidoses in Brazil.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 469, doi. 10.1002/ajmg.a.61456
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- Publication type:
- Article
Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 301, doi. 10.1002/ajmg.a.38551
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- Publication type:
- Article
Genetic causes of intellectual disability in a birth cohort: A population-based study.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1204, doi. 10.1002/ajmg.a.37011
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- Publication type:
- Article
International guidelines for the management and treatment of Morquio A syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 11, doi. 10.1002/ajmg.a.36833
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- Publication type:
- Article
Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)-10-year follow-up of patients who previously participated in an MPS VI survey study.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1953, doi. 10.1002/ajmg.a.36584
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- Publication type:
- Article
Non-immune hydrops fetalis: A prospective study of 53 cases.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3078, doi. 10.1002/ajmg.a.36171
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- Publication type:
- Article
Severe phenotype in MPS II patients associated with a large deletion including contiguous genes.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1055, doi. 10.1002/ajmg.a.35271
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- Publication type:
- Article
Laronidase-Functionalized Multiple-Wall Lipid-Core Nanocapsules: Promising Formulation for a More Effective Treatment of Mucopolysaccharidosis Type I.
- Published in:
- Pharmaceutical Research, 2015, v. 32, n. 3, p. 941, doi. 10.1007/s11095-014-1508-y
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- Publication type:
- Article
Spinal cord issues in adult patients with MPS: transition of care survey.
- Published in:
- Child's Nervous System, 2018, v. 34, n. 9, p. 1759, doi. 10.1007/s00381-018-3834-6
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- Publication type:
- Article
Hydrocephalus and mucopolysaccharidoses: what do we know and what do we not know?
- Published in:
- Child's Nervous System, 2017, v. 33, n. 7, p. 1073, doi. 10.1007/s00381-017-3476-0
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- Publication type:
- Article
Conventional MRI and MR spectroscopy in nonclassical mitochondrial disease: report of three patients with mitochondrial DNA deletion.
- Published in:
- Child's Nervous System, 2006, v. 22, n. 10, p. 1355, doi. 10.1007/s00381-006-0082-y
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- Publication type:
- Article
The CDKN2A p.A148T variant is associated with cutaneous melanoma in Southern Brazil.
- Published in:
- Experimental Dermatology, 2011, v. 20, n. 11, p. 890, doi. 10.1111/j.1600-0625.2011.01332.x
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- Publication type:
- Article
IMPORTANCE OF LIVER BIOPSY IN THE DIAGNOSIS OF LYSOSOMAL ACID LIPASE DEFICIENCY: A CASE REPORT.
- Published in:
- Revista Paulista de Pediatria, 2018, v. 36, n. 1, p. 113, doi. 10.1590/1984-0462/;2018;36;1;00016
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- Publication type:
- Article
INITIAL CLINICAL PRESENTATION IN CASES OF INBORN ERRORS OF METABOLISM IN A REFERENCE CHILDREN'S HOSPITAL: STILL A DIAGNOSTIC CHALLENGE.
- Published in:
- Revista Paulista de Pediatria, 2017, v. 35, n. 3, p. 258, doi. 10.1590/1984-0462/;2017;35;3;00012
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- Publication type:
- Article
Effects of Enzyme Replacement Therapy Started Late in a Murine Model of Mucopolysaccharidosis Type I.
- Published in:
- PLoS ONE, 2015, v. 10, n. 2, p. 1, doi. 10.1371/journal.pone.0117271
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- Publication type:
- Article
Migalastat HCl Reduces Globotriaosylsphingosine (Lyso-Gb<sub>3</sub>) in Fabry Transgenic Mice and in the Plasma of Fabry Patients.
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0057631
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- Publication type:
- Article
Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (<italic>valanafusp alpha</italic>): an open label phase 1-2 trial
- Published in:
- 2018
- By:
- Publication type:
- journal article