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
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
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 Feb 24.
Artigo
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
Inglês
| MEDLINE | ID: mdl-38401382
5.
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
Inglês
| MEDLINE | ID: mdl-36350326
6.
Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects.
Mol Genet Metab
; 139(1): 107582, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-37087816
7.
Exploring genotype-phenotype correlations in glutaric aciduria type 1.
J Inherit Metab Dis
; 46(3): 371-390, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-37020324
8.
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
Inglês
| MEDLINE | ID: mdl-37340906
9.
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
Inglês
| MEDLINE | ID: mdl-36651519
10.
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
Inglês
| MEDLINE | ID: mdl-37318656
11.
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
Am J Hum Genet
; 105(3): 534-548, 2019 09 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31422819
12.
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.
N Engl J Med
; 380(15): 1433-1441, 2019 04 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30970188
13.
Cerebral palsy and related neuromotor disorders: Overview of genetic and genomic studies.
Mol Genet Metab
; 137(4): 399-419, 2022 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-34872807
14.
Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes.
Mol Genet Metab
; 135(4): 311-319, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35227579
15.
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.
Mol Genet Metab
; 135(4): 350-356, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35279367
16.
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.
J Inherit Metab Dis
; 45(4): 663-681, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35506430
17.
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.
Am J Hum Genet
; 103(5): 808-816, 2018 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30388404
18.
Metabolite Identification Using Infrared Ion SpectroscopyâNovel Biomarkers for Pyridoxine-Dependent Epilepsy.
Anal Chem
; 93(46): 15340-15348, 2021 11 23.
Artigo
Inglês
| MEDLINE | ID: mdl-34756024
19.
The role of clinical response to treatment in determining pathogenicity of genomic variants.
Genet Med
; 23(3): 581-585, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33087887
20.
Treatment of ARS deficiencies with specific amino acids.
Genet Med
; 23(11): 2202-2207, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34194004