Detalhe da pesquisa
1.
Challenges and strategies for clinical trials in propionic and methylmalonic acidemias.
Mol Genet Metab
; 139(3): 107612, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37245378
2.
Clinical Outcome Assessments: Use of Normative Data in a Pediatric Rare Disease.
Value Health
; 21(5): 508-514, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29753346
3.
Physical therapy management of infants and children with hypophosphatasia.
Mol Genet Metab
; 119(1-2): 14-9, 2016 09.
Artigo
Inglês
| MEDLINE | ID: mdl-27386757
4.
Lifelong impact of ENPP1 Deficiency and the early onset form of ABCC6 Deficiency from patient or caregiver perspective.
PLoS One
; 17(7): e0270632, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35895733
5.
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients.
Orphanet J Rare Dis
; 16(1): 500, 2021 12 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34857033