Detalhe da pesquisa
1.
Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.
Hum Mol Genet
; 32(1): 46-54, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35913761
2.
Maintenance of cellular vitamin B6 levels and mitochondrial oxidative function depend on pyridoxal 5'-phosphate homeostasis protein.
J Biol Chem
; 299(9): 105047, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37451483
3.
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
Genet Med
; 26(6): 101104, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38411040
4.
Breaking the chains of lipoprotein lipase deficiency: A pediatric perspective on the efficacy and safety of Volanesorsen.
Mol Genet Metab
; 142(1): 108347, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38401382
5.
A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR).
Graefes Arch Clin Exp Ophthalmol
; 2024 Jun 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38847892
6.
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms.
Am J Hum Genet
; 106(2): 143-152, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32032513
7.
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests.
Genet Med
; 25(1): 125-134, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36350326
8.
Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects.
Mol Genet Metab
; 139(1): 107582, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37087816
9.
Exploring genotype-phenotype correlations in glutaric aciduria type 1.
J Inherit Metab Dis
; 46(3): 371-390, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37020324
10.
Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study.
J Inherit Metab Dis
; 46(5): 956-971, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37340906
11.
MOGS-CDG: Quantitative analysis of the diagnostic Glc3 Man tetrasaccharide and clinical spectrum of six new cases.
J Inherit Metab Dis
; 46(2): 313-325, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36651519
12.
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.
Brain
; 145(7): 2602-2616, 2022 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35104841
13.
Hospital-to-home transitions for children with medical complexity: part 2-a core outcome set.
Eur J Pediatr
; 182(9): 3833-3843, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37338690
14.
Hospital-to-home transitions for children with medical complexity: part 1, a systematic review of reported outcomes.
Eur J Pediatr
; 182(9): 3805-3831, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37318656
15.
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Hum Mutat
; 43(3): 403-419, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34989426
16.
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
Am J Hum Genet
; 105(3): 534-548, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31422819
17.
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.
N Engl J Med
; 380(15): 1433-1441, 2019 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30970188
18.
Cerebral palsy and related neuromotor disorders: Overview of genetic and genomic studies.
Mol Genet Metab
; 137(4): 399-419, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34872807
19.
Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes.
Mol Genet Metab
; 135(4): 311-319, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35227579
20.
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.
Mol Genet Metab
; 135(4): 350-356, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35279367