Found: 158
Select item for more details and to access through your institution.
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
- By:
- Publication type:
- Article
A simple protocol for transfecting human mesenchymal stem cells.
- Published in:
- Biotechnology Letters, 2018, v. 40, n. 3, p. 617, doi. 10.1007/s10529-018-2505-8
- By:
- Publication type:
- Article
Understanding the natural history of Gaucher disease.
- Published in:
- American Journal of Hematology, 2015, v. 90, p. S6, doi. 10.1002/ajh.24055
- By:
- Publication type:
- Article
Disruption of morphogenic and growth pathways in lysosomal storage diseases.
- Published in:
- WIREs: Mechanisms of Disease, 2021, v. 13, n. 5, p. 1, doi. 10.1002/wsbm.1521
- By:
- Publication type:
- Article
Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 4, p. 62, doi. 10.3390/ijns8040062
- By:
- Publication type:
- Article
Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 3, p. N.PAG, doi. 10.3390/ijns8030039
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Infections in temporary access for hemodialysis in chronic renal failure patients.
- Published in:
- Revista de Pesquisa: Cuidado é Fundamental, 2019, v. 11, n. 1, p. 20, doi. 10.9789/2175-5361.2019.v11i1.20-24
- By:
- Publication type:
- Article
Nager's acrofacial dysostosis with thumb duplication: report of a case.
- Published in:
- Clinical Genetics, 1984, v. 26, n. 3, p. 228, doi. 10.1111/j.1399-0004.1984.tb04372.x
- By:
- 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
- By:
- Publication type:
- Article
Mucopolysaccharidosis VII in Brazil: natural history and clinical findings.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation.
- Published in:
- 2021
- By:
- Publication type:
- journal article
A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Assessing the impact of the five senses on quality of life in mucopolysaccharidoses.
- Published in:
- 2020
- By:
- Publication type:
- journal article
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
- By:
- Publication type:
- Article
Precision Medicine for Lysosomal Disorders.
- Published in:
- Biomolecules (2218-273X), 2020, v. 10, n. 8, p. 1110, doi. 10.3390/biom10081110
- By:
- 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
- By:
- Publication type:
- Article
Globotriaosylsphingosine induces oxidative DNA damage in cultured kidney cells.
- Published in:
- Nephrology, 2017, v. 22, n. 6, p. 490, doi. 10.1111/nep.12977
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Plasma Pharmacokinetics of Valanafusp Alpha, a Human Insulin Receptor Antibody-Iduronidase Fusion Protein, in Patients with Mucopolysaccharidosis Type I.
- Published in:
- BioDrugs, 2018, v. 32, n. 2, p. 169, doi. 10.1007/s40259-018-0264-7
- By:
- Publication type:
- Article
Prevalence of G6PD deficiency in newborns in the south of Brazil.
- Published in:
- Journal of Medical Screening, 2006, v. 13, n. 2, p. 85, doi. 10.1258/096914106777589641
- By:
- 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
- By:
- Publication type:
- Article
Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 4, p. 281, doi. 10.1111/cge.13583
- By:
- 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
- By:
- Publication type:
- Article
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02983-0
- By:
- Publication type:
- Article
Follow-up of pre-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02875-3
- By:
- Publication type:
- Article
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B).
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02686-6
- By:
- Publication type:
- Article
Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Investigation of lysosomal storage diseases in nonimmune hydrops fetalis.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 8, p. 653, doi. 10.1002/pd.967
- By:
- Publication type:
- Article
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
- Published in:
- Human Mutation, 2021, v. 42, n. 11, p. 1384, doi. 10.1002/humu.24270
- By:
- Publication type:
- Article
Back Cover, Volume 40, Issue 8.
- Published in:
- Human Mutation, 2019, v. 40, n. 8, p. ii, doi. 10.1002/humu.23893
- By:
- Publication type:
- Article
Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease.
- Published in:
- Human Mutation, 2019, v. 40, n. 8, p. 1084, doi. 10.1002/humu.23752
- By:
- Publication type:
- Article
Glycosidase active site mutationsin human α-L-iduronidase.
- Published in:
- Glycobiology, 2001, v. 11, n. 9, p. 741, doi. 10.1093/glycob/11.9.741
- By:
- Publication type:
- Article
STANDARDIZATION OF AN ORGANIC DNA EXTRACTION METHOD FROM DRIED BLOOD SPOTS AND ITS DOWNSTREAM MOLECULAR APPLICATIONS IN NEONATAL SCREENING AND DIAGNOSTIC CONFIRMATION OF LYSOSOMAL DISORDERS.
- Published in:
- Clinical & Biomedical Research, 2022, v. 42, n. 3, p. 218, doi. 10.22491/2357-9730.114246
- By:
- Publication type:
- Article
LONG-TERM RESTORATION OF ALPHA-L-IDURONIDASE ACTIVITY IN FIBROBLASTS FROM PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE I AFTER NON-VIRAL GENE TRANSFER.
- Published in:
- Clinical & Biomedical Research, 2017, v. 37, n. 4, p. 330, doi. 10.4322/2357-9730.74048
- By:
- Publication type:
- Article
PREVALENCE OF THROMBOPHILIA AND THROMBOTIC EVENTS IN PATIENTS WITH FABRY DISEASE IN A REFERENCE CENTER FOR LYSOSOMAL DISORDERS IN SOUTHERN BRAZIL.
- Published in:
- Clinical & Biomedical Research, 2016, v. 36, n. 1, p. 23, doi. 10.4322/2357-9730.61850
- By:
- Publication type:
- Article
MOLECULAR CYTOGENETIC EVALUATION OF CHROMOSOMAL MICRODELETIONS: THE EXPERIENCE OF A PUBLIC HOSPITAL IN SOUTHERN BRAZIL.
- Published in:
- Clinical & Biomedical Research, 2014, v. 34, n. 4, p. 357, doi. 10.4322/2357-9730.50295
- By:
- Publication type:
- Article
FAST AND ROBUST PROTOCOL FOR PRENATAL DIAGNOSIS OF MUCOPOLYSACCHARIDOSIS TYPE II.
- Published in:
- Clinical & Biomedical Research, 2014, v. 34, n. 4, p. 371, doi. 10.4322/2357-9730.49872
- By:
- Publication type:
- Article
Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses.
- Published in:
- Fluids & Barriers of the CNS, 2017, v. 14, p. 1, doi. 10.1186/s12987-017-0073-2
- By:
- Publication type:
- Article
Magnetic resonance imaging findings in Hunter syndrome.
- Published in:
- Acta Paediatrica, 2008, p. 61, doi. 10.1111/j.1651-2227.2008.00646.x
- By:
- Publication type:
- Article
Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances.
- Published in:
- Jornal de Pediatria, 2015, v. 91, n. 1, p. 59, doi. 10.1016/j.jped.2014.05.007
- By:
- Publication type:
- Article
Tetrahydrobiopterin responsiveness of patients with phenylalanine hydroxylase deficiency.
- Published in:
- Jornal de Pediatria, 2011, v. 87, n. 3, p. 245, doi. 10.2223/JPED.2090
- By:
- Publication type:
- Article
Subcutaneous implantation of microencapsulated cells overexpressing α-L-iduronidase for mucopolysaccharidosis type I treatment.
- Published in:
- Journal of Materials Science: Materials in Medicine, 2017, v. 28, n. 3, p. 1, doi. 10.1007/s10856-017-5844-4
- By:
- Publication type:
- Article
Leukocyte Imbalances in Mucopolysaccharidoses Patients.
- Published in:
- Biomedicines, 2023, v. 11, n. 6, p. 1699, doi. 10.3390/biomedicines11061699
- By:
- Publication type:
- Article
Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 01, doi. 10.3389/fgene.2022.1053559
- By:
- Publication type:
- Article
Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report.
- Published in:
- 2022
- By:
- Publication type:
- journal article