Detalhe da pesquisa
1.
Enzyme-replacement therapy in life-threatening hypophosphatasia.
N Engl J Med
; 366(10): 904-13, 2012 Mar 08.
Artigo
Inglês
| MEDLINE | ID: mdl-22397652
2.
The 4th International Lafora Epilepsy Workshop: Shifting paradigms, paths to treatment, and hope for patients.
Epilepsy Behav
; 90: 284-286, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30528121
3.
A prospective short-term study to evaluate methodologies for the assessment of disease extent, impact, and wound evolution in patients with dystrophic epidermolysis bullosa.
Orphanet J Rare Dis
; 17(1): 314, 2022 08 13.
Artigo
Inglês
| MEDLINE | ID: mdl-35964087
4.
X-linked myotubular myopathy: A prospective international natural history study.
Neurology
; 92(16): e1852-e1867, 2019 04 16.
Artigo
Inglês
| MEDLINE | ID: mdl-30902907
5.
Outcome of perinatal hypophosphatasia in manitoba mennonites: a retrospective cohort analysis.
JIMD Rep
; 11: 73-8, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-23580367