Detalles de la búsqueda
1.
Messenger RNA rescues medium-chain acyl-CoA dehydrogenase deficiency in fibroblasts from patients and a murine model.
Hum Mol Genet;
32(14): 2347-2356, 2023 07 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-37162351
2.
A multiomics approach reveals evidence for phenylbutyrate as a potential treatment for combined D,L-2- hydroxyglutaric aciduria.
Mol Genet Metab;
142(3): 108495, 2024 May 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38772223
3.
Major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation disorders in the United States: Results from LC-FAOD Odyssey program.
Mol Genet Metab;
142(1): 108350, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38458123
4.
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Mol Genet Metab;
141(3): 108118, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38244286
5.
Clinical case report of intractable paroxysmal sympathetic hyperactivity in TANGO2 deficiency disorder.
Am J Med Genet A;
: e63633, 2024 Apr 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-38634641
6.
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy.
J Inherit Metab Dis;
2024 Apr 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-38623632
7.
Scaling genetic resources: New paradigms for diagnosis and treatment of rare genetic disease.
Am J Med Genet C Semin Med Genet;
193(1): 77-86, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36448938
8.
Whole-genome sequencing holds the key to the success of gene-targeted therapies.
Am J Med Genet C Semin Med Genet;
193(1): 19-29, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36453229
9.
The Genetic Landscape and Epidemiology of Phenylketonuria.
Am J Hum Genet;
107(2): 234-250, 2020 08 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32668217
10.
Resting and total energy expenditure of patients with long-chain fatty acid oxidation disorders (LC-FAODs).
Mol Genet Metab;
138(3): 107519, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36696737
11.
Challenges and strategies for clinical trials in propionic and methylmalonic acidemias.
Mol Genet Metab;
139(3): 107612, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-37245378
12.
Heptanoic and medium branched-chain fatty acids as anaplerotic treatment for medium chain acyl-CoA dehydrogenase deficiency.
Mol Genet Metab;
140(3): 107689, 2023 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37660571
13.
Synthetic mRNA rescues very long-chain acyl-CoA dehydrogenase deficiency in patient fibroblasts and a murine model.
Mol Genet Metab;
138(1): 106982, 2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36580829
14.
Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.
Mol Genet Metab;
139(2): 107605, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-37207470
15.
Very long chain fatty acid metabolism is required in acute myeloid leukemia.
Blood;
137(25): 3518-3532, 2021 06 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-33720355
16.
Metabolomic disorders: confirmed presence of potentially treatable abnormalities in patients with treatment refractory depression and suicidal behavior.
Psychol Med;
53(13): 6046-6054, 2023 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-36330595
17.
Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension study.
J Inherit Metab Dis;
46(5): 943-955, 2023 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-37276053
18.
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
Brain;
145(11): 3985-3998, 2022 11 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-34957489
19.
Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder.
JAMA;
330(2): 161-169, 2023 07 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37432431
20.
Persistent DNA damage underlies tubular cell polyploidization and progression to chronic kidney disease in kidneys deficient in the DNA repair protein FAN1.
Kidney Int;
102(5): 1042-1056, 2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-35931300