Pesquisa | Portal de Pesquisa da BVS

1.

Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature.

Mohan, Shruthi; Mayers, Megan; Weaver, Meredith; Baudet, Heather; De Biase, Irene; Goldstein, Jennifer; Mao, Rong; McGlaughon, Jennifer; Moser, Ann; Pujol, Aurora; Suchy, Sharon; Yuzyuk, Tatiana; Braverman, Nancy E.

Mol Genet Metab ; 139(3): 107604, 2023 07.

Artigo em Inglês | MEDLINE | ID: mdl-37236006

2.

Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

De Biase, Irene; Tortorelli, Silvia; Kratz, Lisa; J Steinberg, Steven; Cusmano-Ozog, Kristina; Braverman, Nancy.

Genet Med ; 22(4): 686-697, 2020 04.

Artigo em Inglês | MEDLINE | ID: mdl-31822849

3.

Autism Spectrum Disorder and Mild Developmental Delay in a Patient with a Rare Inborn Error of Metabolism.

De Biase, Irene; de Dios, Karl; Brose, Stephen A; Hobert, Judith A.

Clin Chem ; 70(6): 882-884, 2024 Jun 03.

Artigo em Inglês | MEDLINE | ID: mdl-38825343

4.

Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Sharer, J Daniel; De Biase, Irene; Matern, Dietrich; Young, Sarah; Bennett, Michael J; Tolun, Adviye A.

Genet Med ; 20(12): 1499-1507, 2018 12.

Artigo em Inglês | MEDLINE | ID: mdl-30459394

5.

Effect of genotype on galactose-1-phosphate in classic galactosemia patients.

Yuzyuk, Tatiana; Balakrishnan, Bijina; Schwarz, Elizabeth L; De Biase, Irene; Hobert, Judith; Longo, Nicola; Mao, Rong; Lai, Kent; Pasquali, Marzia.

Mol Genet Metab ; 125(3): 258-265, 2018 11.

Artigo em Inglês | MEDLINE | ID: mdl-30172461

6.

An Unusually High Excretion of Ethylmalonic Acid in a Patient with Multiple Acyl-CoA Dehydrogenase Deficiency.

De Biase, Irene; Yuzyuk, Tatiana; Hernandez, Alicia; Basinger, Alice.

Clin Chem ; 67(9): 1290-1292, 2021 09 01.

Artigo em Inglês | MEDLINE | ID: mdl-34470039

7.

Effect of dietary lysine restriction and arginine supplementation in two patients with pyridoxine-dependent epilepsy.

Yuzyuk, Tatiana; Thomas, Amanda; Viau, Krista; Liu, Aiping; De Biase, Irene; Botto, Lorenzo D; Pasquali, Marzia; Longo, Nicola.

Mol Genet Metab ; 118(3): 167-172, 2016 07.

Artigo em Inglês | MEDLINE | ID: mdl-27324284

8.

Unusual Metabolites in a Patient with Isovaleric Acidemia.

De Biase, Irene; Pasquali, Marzia; Asamoah, Alexander.

Clin Chem ; 65(4): 595-597, 2019 04.

Artigo em Inglês | MEDLINE | ID: mdl-30923063

9.

Quantitative analysis of ethanolamine plasmalogen species in red blood cells using liquid chromatography tandem mass spectrometry for diagnosing peroxisome biogenesis disorders.

De Biase, Irene; Yuzyuk, Tatiana; Cui, Wei; Zuromski, Lauren M; Moser, Ann B; Braverman, Nancy E.

Clin Chim Acta ; 542: 117295, 2023 Mar 01.

Artigo em Inglês | MEDLINE | ID: mdl-36914043

10.

Improvement of lipid and lipoprotein profiles in children and adolescents with cystic fibrosis on CFTR modulator therapy.

Yuzyuk, Tatiana; McDonald, Catherine M; Zuromski, Lauren M; De Biase, Irene; Johnson, Lisa; Williams, Nicole; Meihls, Suzanne; Asfour, Fadi.

J Cyst Fibros ; 22(6): 1027-1035, 2023 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-37453889

11.

Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory Perspective.

Prinzi, Julia; Pasquali, Marzia; Hobert, Judith A; Palmquist, Rachel; Wong, Kristen N; Francis, Stephanie; De Biase, Irene.

Int J Neonatal Screen ; 9(4)2023 Nov 02.

Artigo em Inglês | MEDLINE | ID: mdl-37987477

12.

Quantification of Very-Long-Chain and Branched-Chain Fatty Acids in Plasma by Liquid Chromatography-Tandem Mass Spectrometry.

De Biase, Irene; Pasquali, Marzia.

Methods Mol Biol ; 2546: 509-521, 2022.

Artigo em Inglês | MEDLINE | ID: mdl-36127618

13.

Commentary.

De Biase, Irene.

Clin Chem ; 62(8): 1064, 2016 08.

Artigo em Inglês | MEDLINE | ID: mdl-27471244

14.

Quantitative analysis of urine acylglycines by ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS): Reference intervals and disease specific patterns in individuals with organic acidemias and fatty acid oxidation disorders.

Hobert, Judith A; De Biase, Irene; Yuzyuk, Tatiana; Pasquali, Marzia.

Clin Chim Acta ; 523: 285-289, 2021 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-34634292

15.

The nuclear magnetic resonance metabolic profile: Impact of fasting status.

Smy, Laura; De Biase, Irene; Genzen, Jonathan R; Yuzyuk, Tatiana.

Clin Biochem ; 87: 85-92, 2021 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-33159964

16.

Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease.

Rasmussen, Astrid; Alonso, Elisa; Ochoa, Adriana; De Biase, Irene; Familiar, Itziar; Yescas, Petra; Sosa, Ana-Luisa; Rodríguez, Yaneth; Chávez, Mireya; López-López, Marisol; Bidichandani, Sanjay I.

BMC Med Genet ; 11: 4, 2010 Jan 12.

Artigo em Inglês | MEDLINE | ID: mdl-20064270

17.

Laboratory evaluation of homocysteine remethylation disorders and classic homocystinuria: Long-term follow-up using a cohort of 123 patients.

De Biase, Irene; Gherasim, Carmen; La'ulu, Sonia L; Asamoah, Alexander; Longo, Nicola; Yuzyuk, Tatiana.

Clin Chim Acta ; 509: 126-134, 2020 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-32533987

18.

Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats.

M Rindler, Paul; Clark, Rhonda M; Pollard, Laura M; De Biase, Irene; Bidichandani, Sanjay I.

Nucleic Acids Res ; 34(21): 6352-61, 2006.

Artigo em Inglês | MEDLINE | ID: mdl-17142224

19.

Correction to: Quantification of Very-Long-Chain and Branched-Chain Fatty Acids in Plasma by Liquid Chromatography-Tandem Mass Spectrometry.

De Biase, Irene; Pasquali, Marzia.

Methods Mol Biol ; 2546: C1, 2022.

Artigo em Inglês | MEDLINE | ID: mdl-36788186

20.

Introduction to Biochemical Genetics from the Clinical Laboratory Prospective: A Case-Based Discussion.

De Biase, Irene; Diaz-Ochu, Margarita; Rindler, Mary; Hobson-Rohrer, Wendy L.

MedEdPORTAL ; 13: 10586, 2017 May 23.

Artigo em Inglês | MEDLINE | ID: mdl-30800788

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