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Expanding the genetic and clinical spectrum of SLC25A42‐associated disorders and testing of pantothenic acid to improve CoA level in vitro.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 6, p. 417, doi. 10.1002/jmd2.12441
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- Publication type:
- Article
SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.
- Published in:
- 2019
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- Publication type:
- journal article
Uridine Treatment of the First Known Case of SLC25A36 Deficiency.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 18, p. 9929, doi. 10.3390/ijms22189929
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- Publication type:
- Article
Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing.
- Published in:
- Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X211034969
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- Publication type:
- Article
Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing.
- Published in:
- Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X211034969
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- Publication type:
- Article
Anaplerotic Therapy Using Triheptanoin in Two Brothers Suffering from Aconitase 2 Deficiency.
- Published in:
- Metabolites (2218-1989), 2024, v. 14, n. 4, p. 238, doi. 10.3390/metabo14040238
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- Publication type:
- Article
A mutation in the neonatal isoform of SCN2A causes neonatal‐onset epilepsy.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 941, doi. 10.1002/ajmg.a.62581
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- Publication type:
- Article
Cerebro‐oculo‐facio‐skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 930, doi. 10.1002/ajmg.a.62048
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- Publication type:
- Article
Transient N‐glycosylation abnormalities likely due to a de novo loss‐of‐function mutation in the delta subunit of coat protein I.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1371, doi. 10.1002/ajmg.a.61190
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- Publication type:
- Article
Serotonin transporter gene methylation is associated with hippocampal gray matter volume.
- Published in:
- Human Brain Mapping, 2014, v. 35, n. 11, p. 5356, doi. 10.1002/hbm.22555
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- Publication type:
- Article
Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1.
- Published in:
- Nature Genetics, 1999, v. 22, n. 4, p. 352, doi. 10.1038/11921
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- Publication type:
- Article
Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 933, doi. 10.1038/ejhg.2012.36
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- Publication type:
- Article
Multiple QTL influence the serum Lp(a) concentration: a genome-wide linkage screen in the PROCARDIS study.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 2, p. 221, doi. 10.1038/sj.ejhg.5201732
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- Publication type:
- Article
When one disease is not enough: succinyl-CoA: 3-oxoacid coenzyme A transferase (SCOT) deficiency due to a novel mutation in OXCT1 in an infant with known phenylketonuria.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 10, p. 1121, doi. 10.1515/jpem-2017-0177
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- Publication type:
- Article
Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl‐oligosaccharide alpha‐1,2‐mannnosidase‐congenital disorders of glycosylation (MAN1B1‐CDG).
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2021, v. 60, n. 1, p. 42, doi. 10.1002/jmd2.12213
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- Publication type:
- Article
Mitochondrial DNA mutations in Medulloblastoma.
- Published in:
- Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01602-0
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- Publication type:
- Article
It Is Not Always Alcohol Abuse--A Transferrin Variant Impairing the CDT Test.
- Published in:
- Alcohol & Alcoholism. Supplement, 2016, v. 51, n. 2, p. 148, doi. 10.1093/alcalc/agv099
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- Publication type:
- Article
3‐Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency—A novel disorder of valine metabolism.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1323, doi. 10.1002/jimd.12410
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- Publication type:
- Article
N‐glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1370, doi. 10.1002/jimd.12306
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- Publication type:
- Article
It Is Not Always Alcohol Abuse—A Transferrin Variant Impairing the CDT Test.
- Published in:
- Alcohol & Alcoholism, 2016, v. 51, n. 2, p. 148, doi. 10.1093/alcalc/agv099
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- Publication type:
- Article
Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Questions.
- Published in:
- Pediatric Nephrology, 2016, v. 31, n. 8, p. 1281, doi. 10.1007/s00467-015-3071-0
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- Publication type:
- Article
Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Answers.
- Published in:
- Pediatric Nephrology, 2016, v. 31, n. 8, p. 1283, doi. 10.1007/s00467-015-3070-1
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- Publication type:
- Article
Severe Form of ßIV-Spectrin Deficiency With Mitochondrial Dysfunction and Cardiomyopathy—A Case Report.
- Published in:
- Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.643805
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- Publication type:
- Article
Polyunsaturated fatty acids and acetoacetate downregulate the expression of the ATP-binding cassette transporter A1.
- Published in:
- 2002
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- Publication type:
- journal article
CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 4, p. 1, doi. 10.1371/journal.pgen.1004267
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- Publication type:
- Article
Genome-Wide Mapping of Susceptibility to Coronary Artery Disease Identifies a Novel Replicated Locus on Chromosome 17.
- Published in:
- PLoS Genetics, 2006, v. 2, n. 5, p. e72, doi. 10.1371/journal.pgen.0020072
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- Publication type:
- Article
Susceptibility to coronary artery disease and diabetes is encoded by distinct, tightly linked SNPs in the ANRIL locus on chromosome 9p.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 6, p. 806, doi. 10.1093/hmg/ddm352
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- Publication type:
- Article
ADP-ribosylation factor (ARF)-like 7 (ARL7) is induced by cholesterol loading and participates in apolipoprotein AI-dependent cholesterol export
- Published in:
- FEBS Letters, 2004, v. 566, n. 1-3, p. 241, doi. 10.1016/j.febslet.2004.04.048
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- Publication type:
- Article
Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy.
- Published in:
- 1998
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- Publication type:
- Erratum
Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy.
- Published in:
- Nature Genetics, 1998, v. 20, n. 1, p. 96, doi. 10.1038/1770
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- Publication type:
- Article