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1.
Estimated prevalence of moderate to severely elevated total homocysteine levels in the United States: A missed opportunity for diagnosis of homocystinuria?
Mol Genet Metab;
130(1): 36-40, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-32057642
2.
Prevalence, characteristics, and costs of diagnosed homocystinuria, elevated homocysteine, and phenylketonuria in the United States: a retrospective claims-based comparison.
BMC Health Serv Res;
20(1): 183, 2020 Mar 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32143624
3.
Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial.
J Clin Med;
8(8)2019 Jul 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-31344955
4.
Validation of an Immunoassay for Anti-thymidine Phosphorylase Antibodies in Patients with MNGIE Treated with Enzyme Replacement Therapy.
Mol Ther Methods Clin Dev;
11: 1-8, 2018 Dec 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-30294618
5.
Sulfatide levels correlate with severity of neuropathy in metachromatic leukodystrophy.
Ann Clin Transl Neurol;
2(5): 518-33, 2015 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-26000324
6.
Development of a panel of highly sensitive, equivalent assays for detection of antibody responses to velaglucerase alfa or imiglucerase enzyme replacement therapy in patients with Gaucher disease.
J Immunol Methods;
373(1-2): 45-53, 2011 Oct 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-21846471
7.
Rapid, single-step assay for Hunter syndrome in dried blood spots using digital microfluidics.
Clin Chim Acta;
412(19-20): 1895-7, 2011 Sep 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-21708141
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