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Genetics and molecular biology, ISSN 1415-4757, 2019, Volume 42, Issue 1 suppl 1, pp. 153 - 154
In January 1982, the Medical Genetics Unit of Hospital de Clinicas de Porto Alegre (HCPA) began its history in Brazil. It was elevated to a Medical Genetics... 
BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | Medicine | Brain | Postgraduate | Laboratories | Medical services | Genetics | Experimental research | Gene therapy
Journal Article
Acta Pediátrica de México, ISSN 0186-2391, 07/2014, Volume 33, Issue 6, pp. 329 - 330
In the subject of rare diseases, experience and knowledge is limited. With a rare disease registry, longitudinal data can be added to increase information of... 
datos longitudinales | errores innatos del metabolismo | Enfermedades raras | registro
Journal Article
Journal Article
Journal Article
American Journal of Hematology, ISSN 0361-8609, 07/2015, Volume 90, Issue 1, pp. S6 - S11
Gaucher disease is a rare and extraordinarily heterogeneous inborn error of metabolism that exhibits diverse manifestations, a broad range of age of onset of... 
BONE-DISEASE | DIAGNOSIS | GLUCOCEREBROSIDASE | GENE | REVISED RECOMMENDATIONS | PHENOTYPE | SEVERITY SCORING SYSTEM | TYPE-1 | HEMATOLOGY | ENZYME REPLACEMENT THERAPY | CHILDREN | Registries | Gaucher Disease - pathology | Humans | Gaucher Disease - drug therapy
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 07/2018, Volume 13, Issue 1, pp. 110 - 11
Background: Mucopolysaccharidosis (MPS) Type I (MPSI) is caused by mutations in the gene encoding the lysosomal enzyme, alpha-L-iduronidase (IDUA), and a... 
Iduronidase | Blood-brain barrier | Open label clinical trial | Efficacy | Mucopolysaccharidosis Type I | Safety | Insulin receptor | MEDICINE, RESEARCH & EXPERIMENTAL | GLYCOSAMINOGLYCANS | HEMATOPOIETIC-CELL TRANSPLANTATION | RHESUS-MONKEYS | LARONIDASE | MONOCLONAL-ANTIBODY | MPS-I | CHILDREN | ENZYME-REPLACEMENT THERAPY | PHARMACOKINETICS | GENETICS & HEREDITY | Recombinant Fusion Proteins - adverse effects | Humans | Recombinant Fusion Proteins - therapeutic use | Antibodies, Monoclonal - adverse effects | Antibodies, Monoclonal - therapeutic use | Male | Blood-Brain Barrier - drug effects | Blood-Brain Barrier - metabolism | Iduronidase - therapeutic use | Antibodies, Monoclonal - administration & dosage | Mucopolysaccharidosis I - drug therapy | Adolescent | Iduronidase - adverse effects | Female | Receptor, Insulin - metabolism | Infusions, Intravenous | Child | Recombinant Fusion Proteins - administration & dosage | Iduronidase - administration & dosage | Viral antibodies | Complications and side effects | Enzymes | Brain | Pediatrics | Clinical trials | Antibodies | Mucopolysaccharidosis | Product development | Children | Insulin | Health aspects | Heparan sulfate | Volumetric analysis | Intravenous administration | Cognitive ability | Cognition | Proteins | Neurodegeneration | Mutation | Fusion protein | Drug dosages | Genotypes
Journal Article
Jornal de Pediatria, ISSN 0021-7557, 03/2019, Volume 95, Issue 2, pp. 166 - 172
To assess the impact of an intervention for teenage mothers with the involvement of maternal grandmothers on the prevalence of pacifier use in the first six... 
Amamentação | Ensaio clínico | Pacifier | Clinical trial | Mãe adolescente | Breastfeeding | Grandmother | Chupeta | Teenage mother | Avó | 1ST YEAR | PREVALENCE | ACUTE OTITIS-MEDIA | INFANTS | ADOLESCENT MOTHERS | PEDIATRICS | DURATION | LIFE
Journal Article