Detalhe da pesquisa
1.
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(3): 107624, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37348148
2.
Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-up.
J Inherit Metab Dis
; 2023 Jul 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37402126
3.
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.
J Inherit Metab Dis
; 43(5): 1121-1130, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32369189
4.
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(4): 107647, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37453860
5.
Navigating the rare neurotransmitter disease diagnosis: Insights from patients and health care professionals.
J Inherit Metab Dis
; 2023 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37622614
6.
'Letting them loose!' A different approach to a biochemistry post-exam training session.
Health Info Libr J
; 30(1): 83-7, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23413797
7.
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
Orphanet J Rare Dis
; 12(1): 12, 2017 01 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28100251
8.
Long-term erythropoietin gene expression from transduced cells in bioisolator devices.
Hum Gene Ther
; 14(17): 1587-93, 2003 Nov 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-14633401
9.
An experimental paradigm for the prediction of Post-Operative Pain (PPOP).
J Vis Exp
; (35)2010 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-20107427
10.
Treatment of canine cyclic neutropenia by lentivirus-mediated G-CSF delivery.
Blood
; 102(6): 2046-52, 2003 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12750178