Detalhe da pesquisa
1.
Improved attention linked to sustained phenylalanine reduction in adults with early-treated phenylketonuria.
Am J Med Genet A
; 188(3): 768-778, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34826353
2.
Successful orthotopic heart transplantation in CPTII deficiency.
Mol Genet Metab
; 133(2): 182-184, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34020866
3.
Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing.
Am J Med Genet A
; 182(4): 813-822, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31913574
4.
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.
Brain
; 142(3): 542-559, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30668673
5.
Complex patterns of inheritance, including synergistic heterozygosity, in inborn errors of metabolism: Implications for precision medicine driven diagnosis and treatment.
Mol Genet Metab
; 128(1-2): 1-9, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31358473
6.
Newborn screening for Krabbe disease in New York State: the first eight years' experience.
Genet Med
; 18(3): 239-48, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26795590
7.
Metabolic providers in crisis - Burning out on the road to burnout?
Mol Genet Metab
; 134(4): 285-286, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34810068
8.
Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System.
Mol Genet Metab
; 118(1): 15-20, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27033733
9.
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
Mol Genet Metab
; 119(1-2): 75-82, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27477829
10.
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.
Mol Genet Metab
; 118(4): 272-81, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27209629
11.
Long-term safety and efficacy of sapropterin: the PKUDOS registry experience.
Mol Genet Metab
; 114(4): 557-63, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25724073
12.
Development of clinical guidelines for inborn errors of metabolism: commentary.
Mol Genet Metab
; 108(4): 203-5, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23428739
13.
Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening.
Mol Genet Metab
; 106(4): 439-41, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22658692
14.
Internet use by parents of infants with positive newborn screens.
J Inherit Metab Dis
; 35(5): 879-84, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22297410
15.
Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM-IS database.
Mol Genet Metab Rep
; 32: 100884, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35677112
16.
Thoroughly modern medicine.
Mol Genet Metab
; 104(1-2): 1-2, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21807540
17.
Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.
Mol Genet Metab
; 99(3): 263-8, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20036593
18.
Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe.
Orphanet J Rare Dis
; 15(1): 266, 2020 09 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32977849
19.
Familial Cerebral Cavernous Malformation Syndrome with Concomitant Fourth Ventricular Ependymoma: True Association or Mere Coincidence?
Cancer Genet
; 244: 36-39, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32434131
20.
Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease.
Genet Med
; 11(3): 210-9, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19287243