Detalhe da pesquisa
1.
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia.
Ann Neurol
; 92(2): 292-303, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616651
2.
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.
J Inherit Metab Dis
; 44(4): 1070-1082, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33443316
3.
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
J Inherit Metab Dis
; 44(6): 1489-1502, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34245036
4.
POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene.
Neurol Neurochir Pol
; 53(5): 369-376, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31577365
5.
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
Nat Commun
; 12(1): 5529, 2021 09 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34545092
6.
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
Orphanet J Rare Dis
; 15(1): 126, 2020 05 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32456656
7.
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
Orphanet J Rare Dis
; 15(1): 202, 2020 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32758270
8.
Peripapillary microcirculation in Leber hereditary optic neuropathy.
Acta Ophthalmol
; 97(1): e71-e76, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30259673
9.
Uptake of technetium 99m HDP in cardiac amyloidosis.
Int J Cardiovasc Imaging
; 19(3): 225-7, 2003 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12834159
10.
Adenosine myocardial perfusion single photon emission computed tomographic stress testing 24-72 h after uncomplicated myocardial infarction.
Int J Cardiovasc Imaging
; 18(4): 269-72, 2002 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12123319
11.
Multislice CT angiographic reconstruction of marginal artery of Drummond as collateral to occluded superior mesenteric artery.
Am Heart Hosp J
; 4(4): 290-1, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-17086010