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1 . Academic Journal
Improvement of lipid and lipoprotein profiles in children and adolescents with cystic fibrosis on CFTR modulator therapy
저자
by
Yuzyuk, Tatiana
;
McDonald, Catherine M.
;
Zuromski, Lauren M.
;
De Biase, Irene
;
Johnson, Lisa
, et al.
소스
In
Journal of Cystic Fibrosis
November 2023 22(6):1027-1035
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7 . Academic Journal
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
저자
by
Mohan, Shruthi
;
Mayers, Megan
;
Weaver, Meredith
;
Baudet, Heather
;
De Biase, Irene
, et al.
소스
In
Molecular Genetics and Metabolism
July 2023 139(3)
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7 . Academic Journal
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
저자
by
Hobert, Judith A.
;
De Biase, Irene
;
Yuzyuk, Tatiana
;
Pasquali, Marzia
.
소스
In
Clinica Chimica Acta
December 2021 523:285-289
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6 . Academic Journal
The nuclear magnetic resonance metabolic profile: Impact of fasting status
저자
by
Smy, Laura
;
De Biase, Irene
;
Genzen, Jonathan R.
;
Yuzyuk, Tatiana
.
소스
In
Clinical Biochemistry
January 2021 87:85-92
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6 . Academic Journal
Laboratory evaluation of homocysteine remethylation disorders and classic homocystinuria: Long-term follow-up using a cohort of 123 patients
저자
by
De Biase, Irene
;
Gherasim, Carmen
;
La'ulu, Sonia L.
;
Asamoah, Alexander
;
Longo, Nicola
, et al.
소스
In
Clinica Chimica Acta
October 2020 509:126-134
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7 . Academic Journal
A novel method for simultaneous quantification of alpha-aminoadipic semialdehyde/piperideine-6-carboxylate and pipecolic acid in plasma and urine
저자
by
Yuzyuk, Tatiana
;
Liu, Aiping
;
Thomas, Amanda
;
Wilson, JoDell E.
;
De Biase, Irene
, et al.
소스
In
Journal of Chromatography B
1 April 2016 1017-1018:145-152
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7 . Academic Journal
Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory Perspective.
저자
by
Prinzi, Julia
;
Pasquali, Marzia
;
Hobert, Judith A.
;
Palmquist, Rachel
;
Wong, Kristen N.
, et al.
소스
International Journal of Neonatal Screening (IJNS); Dec2023, Vol. 9 Issue 4, p64, 10p
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7 . Academic Journal
Clinical and biochemical characterization of a patient with prolidase deficiency, a rare disorder of collagen metabolism.
저자
by
Coody, Troy
;
De Biase, Irene
;
Sutton, V. Reid
;
Pasquali, Marzia
;
Shayota, Brian
.
소스
Molecular Genetics & Metabolism
. Apr2024, Vol. 141 Issue 4, pN.PAG-N.PAG. 1p.
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7 . Academic Journal
Applying phenotypic evidence to support the molecular diagnosis of inborn errors of metabolism (IEMS) across diverse clinical contexts: The ClinGen IEM variant curation expert panel (VCEP) experience.
저자
by
Groopman, Emily
;
Goldstein, Jenny
;
Dickson, Alexa
;
Zastrow, Diane
;
Mohan, Shruthi
, et al.
소스
Molecular Genetics & Metabolism
. Apr2024, Vol. 141 Issue 4, pN.PAG-N.PAG. 1p.
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7 . Academic Journal
Effect of genotype on galactose-1-phosphate in classic galactosemia patients.
저자
by
Yuzyuk, Tatiana
;
Balakrishnan, Bijina
;
Schwarz, Elizabeth L.
;
De Biase, Irene
;
Hobert, Judith
, et al.
소스
Molecular Genetics & Metabolism
. Nov2018, Vol. 125 Issue 3, p258-265. 8p.
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