Detalhe da pesquisa
1.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Am J Hum Genet
; 111(4): 778-790, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531365
2.
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.
J Inherit Metab Dis
; 46(2): 326-334, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36719165
3.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Am J Hum Genet
; 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38749428
4.
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.
Genet Med
; 23(10): 1933-1943, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34172899
5.
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Genet Med
; 23(11): 2122-2137, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34345025
6.
Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency.
J Inherit Metab Dis
; 44(4): 847-856, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33325055
7.
Clinical manifestations and management of fatty acid oxidation disorders.
Rev Endocr Metab Disord
; 21(4): 479-493, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32654032
8.
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.
Genet Med
; 21(8): 1899, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30327536
9.
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.
Genet Med
; 21(3): 601-607, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30245509
10.
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.
Mol Genet Metab
; 127(4): 336-345, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31326288
11.
Newborn screening for proximal urea cycle disorders: Current evidence supporting recommendations for newborn screening.
Mol Genet Metab
; 124(2): 109-113, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29703588
12.
Defining the phenotypic spectrum of SLC6A1 mutations.
Epilepsia
; 59(2): 389-402, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29315614
13.
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.
Genet Med
; 17(7): 561-8, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25503497
14.
Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials.
Mol Genet Metab
; 116(1-2): 29-34, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26296711
15.
Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.
Mol Genet Metab
; 111(4): 484-92, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24503138
16.
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate.
Hepatology
; 57(6): 2171-9, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22961727
17.
Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L).
Pediatr Int
; 55(6): e156-8, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24330302
18.
Newborn screening and renal disease: where we have been; where we are now; where we are going.
Pediatr Nephrol
; 27(9): 1453-64, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21947256
19.
Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum.
Pediatr Int
; 54(5): 585-601, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22494076
20.
Long-term Burosumab Administration Is Safe and Effective in Adults With X-linked Hypophosphatemia.
J Clin Endocrinol Metab
; 108(1): 155-165, 2022 12 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36072994