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Lúcia Lacerda
Intelligence and National Security Alliance
EndocrinologyMucopolysaccharidosisGeneticsMedicineBiology
33Publications
12H-index
521Citations
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Publications 33
Newest
#1Carla Martins (UdeM: Université de Montréal)H-Index: 2
#2Paula Frassinetti Vasconcelos de Medeiros (UFCG: Federal University of Campina Grande)H-Index: 5
Last. Alexey V. Pshezhetsky (UdeM: Université de Montréal)H-Index: 17
view all 13 authors...
Source
#1Eduardo Vieira Neto (UFRJ: Federal University of Rio de Janeiro)H-Index: 1
Last. Márcia Gonçalves Ribeiro (UFRJ: Federal University of Rio de Janeiro)H-Index: 14
view all 9 authors...
Source
#1Eduardo Vieira Neto (UFRJ: Federal University of Rio de Janeiro)H-Index: 1
Last. Márcia Gonçalves Ribeiro (UFRJ: Federal University of Rio de Janeiro)H-Index: 14
view all 9 authors...
3 CitationsSource
#1Carla Martins (UdeM: Université de Montréal)H-Index: 2
#2Paula Frassinetti de Medeiros (UFCG: Federal University of Campina Grande)
Last. Alexey V. PshezhetskyH-Index: 25
view all 9 authors...
Source
1 Citations
2 CitationsSource
#1João NascimentoH-Index: 1
#2Céu R. MotaH-Index: 1
Last. Cristina GarridoH-Index: 3
view all 7 authors...
Abstract Background Peroxisomal disorders are classified in two major groups: (1) peroxisome biogenesis disorders and (2) single peroxisomal enzyme/transporter deficiencies. D-bifunctional protein deficiency (OMIM #261515) is included in this last group of rare diseases and leads to an impaired peroxisomal beta-oxidation. D-bifunctional protein deficiencies are divided into four types based on the degree of activity of the 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase protein units. ...
3 CitationsSource
#1Amelia Morrone (UniFI: University of Florence)H-Index: 23
#2Karen Tylee (Central Manchester University Hospitals NHS Foundation Trust)H-Index: 15
Last. Nicole Miller (BioMarin Pharmaceutical)H-Index: 5
view all 21 authors...
1 CitationsSource
#1Amelia Morrone (UniFI: University of Florence)H-Index: 23
#2Karen Tylee (Central Manchester University Hospitals NHS Foundation Trust)H-Index: 15
Last. Nicole Miller (BioMarin Pharmaceutical)H-Index: 5
view all 21 authors...
Abstract Morquio A (Mucopolysaccharidosis IVA; MPS IVA) is an autosomal recessive lysosomal storage disorder caused by partial or total deficiency of the enzyme galactosamine-6-sulfate sulfatase (GALNS; also known as N -acetylgalactosamine-6-sulfate sulfatase) encoded by the GALNS gene. Patients who inherit two mutated GALNS gene alleles have a decreased ability to degrade the glycosaminoglycans (GAGs) keratan sulfate and chondroitin 6-sulfate, thereby causing GAG accumulation within lysosomes a...
25 CitationsSource
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