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1 . Academic Journal
Riboflavin transporter deficiency in young adults unmasked by dietary changes.
저자
by
Jaeger, Bregje
;
Langeveld, Mirjam
;
Brunkhorst, Robert
;
Distelmaier, Felix
;
Pop, Ana
, et al.
소스
Journal of Inherited Metabolic Disease Reports; Jul2024, Vol. 65 Issue 4, p233-238, 6p
Open Access (Wiley)
Scopus
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7 . Academic Journal
Lethal Capecitabine Toxicity in Patients With Complete Dihydropyrimidine Dehydrogenase Deficiency Due to Ultra-Rare DPYD Variants.
저자
by
van Kuilenburg, André B.P.
;
Pleunis-van Empel, Marjolein C.H.
;
Brouwer, Rick B.
;
Sijben, Angelique E.J.
;
Knapen, Daan G.
, et al.
소스
JCO Precision Oncology
. 4/11/2024, Vol. 8, p1-7. 7p.
Web of Science
Scopus
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7 . Academic Journal
Novel variants and genotype: Phenotype correlation in SSADH deficiency.
저자
by
DiBacco, Melissa L.
;
Pop, Ana
;
Salomons, Gajja S.
;
Hanson, Ellen
;
Roullet, Jean-Baptiste
, et al.
소스
Neurology; 11/10/2020, Vol. 95 Issue 19, pe2675-e2682, 8p
Full Text (LWW)
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7 . Academic Journal
Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.
저자
by
Pop, Ana
;
Smith, Desirée E.C.
;
Kirby, Trevor
;
Walters, Dana
;
Gibson, K. Michael
, et al.
소스
Molecular Genetics & Metabolism
. Jul2020, Vol. 130 Issue 3, p172-178. 7p.
Full Text (ScienceDirect)
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7 . Academic Journal
Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency.
저자
by
Brown, Madalyn
;
Turgeon, Coleman
;
Rinaldo, Piero
;
Pop, Ana
;
Salomons, Gajja S.
, et al.
소스
Journal of Inherited Metabolic Disease Reports; May2020, Vol. 53 Issue 1, p29-38, 10p
Open Access (Wiley)
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7 . Academic Journal
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.
저자
by
Yan, Huifang
;
Helman, Guy
;
Murthy, Swetha E.
;
Ji, Haoran
;
Crawford, Joanna
, et al.
소스
American Journal of Human Genetics
. Nov2019, Vol. 105 Issue 5, p996-1004. 9p.
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7 . Academic Journal
Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency
저자
by
DiBacco, Melissa L.
;
Pop, Ana
;
Salomons, Gajja S.
;
Hanson, Ellen
;
Roullet, Jean-Baptiste
, et al.
소스
Neurology
. Nov 10, 2020 95(19):e2675-e2682
Full Text (LWW)
Web of Science
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7 . Academic Journal
D‐2‐hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.
저자
by
Pop, Ana
;
Struys, Eduard A.
;
Jansen, Erwin E. W.
;
Fernandez, Matilde R.
;
Kanhai, Warsha A.
, et al.
소스
Human Mutation; Jul2019, Vol. 40 Issue 7, p975-982, 8p
Web of Science
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7 . Academic Journal
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.
저자
by
Pop, Ana
;
Williams, Monique
;
Struys, Eduard A.
;
Monné, Magnus
;
Jansen, Erwin E. W.
, et al.
소스
Journal of Inherited Metabolic Disease; Mar2018, Vol. 41 Issue 2, p169-180, 12p
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7 . Academic Journal
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.
저자
by
Mendes, Marisa I
;
Smith, Desirée EC
;
Pop, Ana
;
Lennertz, Pascal
;
Fernandez Ojeda, Matilde R
, et al.
소스
Human Mutation; May2017, Vol. 38 Issue 5, p524-531, 8p
Web of Science
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