Detalhe da pesquisa
1.
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Brain
; 143(1): 55-68, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31834374
2.
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Hum Mutat
; 41(3): 641-654, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31769566
3.
Chronic Dengue Virus Panencephalitis in a Patient with Progressive Dementia with Extrapyramidal Features.
Ann Neurol
; 86(5): 695-703, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31461177
4.
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
J Inherit Metab Dis
; 40(1): 21-48, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27905001
5.
Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.
J Inherit Metab Dis
; 39(3): 331-340, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27038030
6.
Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis.
Brain
; 138(Pt 3): 517-39, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25636970
7.
Ocular disease in the cobalamin C defect: a review of the literature and a suggested framework for clinical surveillance.
Mol Genet Metab
; 114(4): 537-46, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25742969
8.
Impact of tumor location and pathological discordance on survival of children with midline high-grade gliomas treated on Children's Cancer Group high-grade glioma study CCG-945.
J Neurooncol
; 121(3): 573-81, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25431150
9.
10.
Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type.
Mol Genet Metab
; 110(3): 241-7, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23954310
11.
Lethal neonatal hyperammonemia in severe ornithine transcarbamylase (OTC) deficiency compounded by large hepatic portosystemic shunt.
J Inherit Metab Dis
; 40(1): 159-160, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27832417
12.
Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH.
Am J Med Genet A
; 155A(10): 2508-11, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21998864
13.
Rapid resolution of infantile lipemia retinalis following exchange transfusion.
J Inherit Metab Dis
; 39(6): 889-890, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27518769
14.
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.
Mol Genet Metab
; 99(2): 116-23, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19836982
15.
Co-occurrence of the Poland sequence in a patient with the cobalamin C defect: more than just a coincidence?
J Inherit Metab Dis
; 38(2): 365-6, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25388550
16.
Diagnostic challenges in a child with familial hemophagocytic lymphohistiocytosis type 3 (FHLH3) presenting with fulminant neurological disease.
Childs Nerv Syst
; 25(2): 153-9, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19023578
17.
Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I.
JIMD Rep
; 43: 71-77, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-29654546
18.
Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.
Mitochondrion
; 44: 58-64, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29307858
19.
Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium.
Transl Sci Rare Dis
; 3(3-4): 157-170, 2018 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-30613471
20.
Three sisters with Chiari I malformation with and without associated syringomyelia.
Pediatr Neurosurg
; 43(6): 533-8, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17992048