Detalles de la búsqueda
1.
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
2.
Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium.
J Inherit Metab Dis;
46(2): 220-231, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36266255
3.
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
J Inherit Metab Dis;
46(3): 482-519, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36221165
4.
Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.
Am J Med Genet A;
188(9): 2738-2749, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35799415
5.
Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
J Inherit Metab Dis;
45(4): 848-861, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35460084
6.
A novel small molecule approach for the treatment of propionic and methylmalonic acidemias.
Mol Genet Metab;
133(1): 71-82, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33741272
7.
Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis.
Am J Med Genet A;
185(2): 500-507, 2021 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33300687
8.
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
J Inherit Metab Dis;
44(3): 566-592, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33595124
9.
Genetic considerations for adults with congenital heart disease.
Am J Med Genet C Semin Med Genet;
184(1): 149-153, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-32052945
10.
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.
Genet Med;
22(11): 1838-1850, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32694869
11.
Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes.
Mol Genet Metab;
130(3): 183-196, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32451238
12.
Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2.
Am J Med Genet A;
182(10): 2426-2431, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32804429
13.
Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria.
Mol Genet Metab;
128(4): 444-451, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31648943
14.
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.
Mol Genet Metab;
126(4): 397-405, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30827756
15.
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry.
J Inherit Metab Dis;
42(6): 1162-1175, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30734935
16.
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
J Inherit Metab Dis;
42(2): 333-352, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30773687
17.
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.
Am J Hum Genet;
96(4): 675-81, 2015 Apr 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-25817015
18.
Solid organ transplantation in methylmalonic acidemia and propionic acidemia: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med;
25(2): 100337, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36534118
19.
Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism.
J Inherit Metab Dis;
41(2): 157-168, 2018 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29159707
20.
Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.
J Inherit Metab Dis;
41(4): 741-742, 2018 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-29234995