Detalhe da pesquisa
1.
Biallelic hypomorphic variants in CAD cause uridine-responsive macrocytic anaemia with elevated haemoglobin-A2.
Br J Haematol
; 204(3): 1067-1071, 2024 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37984840
2.
Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.
J Inherit Metab Dis
; 47(2): 220-229, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38375550
3.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100314, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36305855
4.
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
J Inherit Metab Dis
; 46(2): 232-242, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36515074
5.
Long COVID-19 Liver Manifestation in Children.
J Pediatr Gastroenterol Nutr
; 75(3): 244-251, 2022 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35687535
6.
DLG4-related synaptopathy: a new rare brain disorder.
Genet Med
; 23(5): 888-899, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33597769
7.
The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
J Inherit Metab Dis
; 44(3): 606-617, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33190319
8.
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
Am J Hum Genet
; 100(2): 257-266, 2017 02 02.
Artigo
Inglês
| MEDLINE | ID: mdl-28132689
9.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100828, 2023 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-37272928
10.
Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
J Inherit Metab Dis
; 40(2): 209-218, 2017 03.
Artigo
Inglês
| MEDLINE | ID: mdl-28054209
11.
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.
Pediatr Nephrol
; 32(12): 2273-2282, 2017 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-28779239
12.
Clinical score for early diagnosis and treatment of stroke-like episodes in MELAS syndrome.
Acta Neurol Belg
; 123(3): 1019-1028, 2023 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-36792807
13.
A novel SLC25A13 gene splice site variant causes Citrin deficiency in an infant.
Gene
; 874: 147483, 2023 Jul 20.
Artigo
Inglês
| MEDLINE | ID: mdl-37196891
14.
Clinicoradiologic Criteria for the Diagnosis of Stroke-like Episodes in MELAS.
Neurol Genet
; 9(4): e200082, 2023 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-37426458
15.
Hereditary orotic aciduria identified by newborn screening.
Front Genet
; 14: 1135267, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-36999056
16.
Involvement of immunologic and biochemical mechanisms in the pathogenesis of Tourette's syndrome.
J Neural Transm (Vienna)
; 119(5): 621-6, 2012 May.
Artigo
Inglês
| MEDLINE | ID: mdl-22139323
17.
Therapeutic hypothermia for asphyxiated newborns: experience of an Israeli tertiary center.
Isr Med Assoc J
; 13(1): 29-33, 2011 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-21446233
18.
Dataset Growth in Medical Image Analysis Research.
J Imaging
; 7(8)2021 Aug 20.
Artigo
Inglês
| MEDLINE | ID: mdl-34460791
19.
The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel.
Orphanet J Rare Dis
; 16(1): 379, 2021 09 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34496908
20.
Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease.
Mol Genet Metab Rep
; 25: 100631, 2020 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-32904102