Detalhe da pesquisa
1.
Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia.
Clin Genet
; 103(1): 45-52, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36175384
2.
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective.
J Inherit Metab Dis
; 2023 Jul 16.
Artigo
Inglês
| MEDLINE | ID: mdl-37455357
3.
Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy.
Brain
; 145(1): 105-118, 2022 03 29.
Artigo
Inglês
| MEDLINE | ID: mdl-34398223
4.
Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.
J Inherit Metab Dis
; 45(6): 1094-1105, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36053831
5.
Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.
Mol Genet Metab
; 130(3): 172-178, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32402538
6.
The end of the laboratory developed test as we know it? Recommendations from a national multidisciplinary taskforce of laboratory specialists on the interpretation of the IVDR and its complications.
Clin Chem Lab Med
; 2020 Nov 23.
Artigo
Inglês
| MEDLINE | ID: mdl-33554568
7.
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.
Am J Hum Genet
; 98(6): 1235-1242, 2016 06 02.
Artigo
Inglês
| MEDLINE | ID: mdl-27259054
8.
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients.
J Inherit Metab Dis
; 42(1): 147-158, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30740741
9.
Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review.
Metab Brain Dis
; 34(2): 557-563, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30637540
10.
Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.
Genet Med
; 19(2): 256-263, 2017 02.
Artigo
Inglês
| MEDLINE | ID: mdl-28055022
11.
Continuous age- and sex-adjusted reference intervals of urinary markers for cerebral creatine deficiency syndromes: a novel approach to the definition of reference intervals.
Clin Chem
; 61(5): 760-8, 2015 May.
Artigo
Inglês
| MEDLINE | ID: mdl-25759465
12.
A haploproficient interaction of the transaldolase paralogue NQM1 with the transcription factor VHR1 affects stationary phase survival and oxidative stress resistance.
BMC Genet
; 16: 13, 2015 Feb 11.
Artigo
Inglês
| MEDLINE | ID: mdl-25887987
13.
First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?
J Inherit Metab Dis
; 38(5): 889-94, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-25647543
14.
Clinical and molecular characteristics of two transaldolase-deficient patients.
Eur J Pediatr
; 173(12): 1679-82, 2014 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-24497183
15.
Sulfate: a neglected (but potentially highly relevant) anion.
Essays Biochem
; 2024 Apr 19.
Artigo
Inglês
| MEDLINE | ID: mdl-38639060
16.
Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype.
J Inherit Metab Dis
; 36(6): 997-1004, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23315216
17.
A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy.
JIMD Rep
; 64(3): 217-222, 2023 May.
Artigo
Inglês
| MEDLINE | ID: mdl-37151363
18.
Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing).
Front Neurol
; 14: 1206106, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37560457
19.
Nephrological abnormalities in patients with transaldolase deficiency.
Nephrol Dial Transplant
; 27(8): 3224-7, 2012 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-22510381
20.
Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency.
Biochim Biophys Acta
; 1802(11): 1028-35, 2010 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-20600873