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.
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity.
Mov Disord
; 36(3): 690-703, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33152132
3.
Clinical presentation and long-term follow-up of dopamine beta hydroxylase deficiency.
J Inherit Metab Dis
; 44(3): 554-565, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33034372
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.
Congenital eyelid ptosis, decreased glomerular filtration, and orthostatic hypotension: Questions.
Pediatr Nephrol
; 32(7): 1169-1170, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27858193
6.
Congenital eyelid ptosis, decreased glomerular filtration, and orthostatic hypotension: Answers.
Pediatr Nephrol
; 32(7): 1171-1174, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27858196
7.
Neurodevelopmental outcome in full-term newborns with refractory neonatal seizures.
Acta Paediatr
; 101(4): e173-8, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22085256
8.
Consensus Recommendations for the Clinical Management of Hematological Malignancies in Patients with DNA Double Stranded Break Disorders.
Cancers (Basel)
; 14(8)2022 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35454905
9.
Hypocalcemia as a Cause of Complex Febrile Seizures in a Toddler.
Case Rep Pediatr
; 2021: 1798741, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34336337
10.
Blood, urine and cerebrospinal fluid analysis in TH and AADC deficiency and the effect of treatment.
Mol Genet Metab Rep
; 27: 100762, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33996491
11.
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
12.
Autosomal dominant GCH1 mutations causing spastic paraplegia at disease onset.
Parkinsonism Relat Disord
; 74: 12-15, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32278297
13.
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
14.
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
15.
CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia.
Eur J Med Genet
; 62(12): 103605, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30572172
16.
l-Dopa in dystonia: A modern perspective.
Neurology
; 88(19): 1865-1871, 2017 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28389587
17.
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
18.
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders.
Mol Genet Metab Rep
; 9: 61-66, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27830117
19.
The paradox of hyperdopaminuria in aromatic L-amino Acid deficiency explained.
JIMD Rep
; 4: 39-45, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23430895
20.
Multi-channel amplitude-integrated EEG characteristics in preterm infants with a normal neurodevelopment at two years of corrected age.
Early Hum Dev
; 88(4): 209-16, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21924567