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1 . Academic Journal
Newborn screening for the full set of mucopolysaccharidoses in dried blood spots based on first-tier enzymatic assay followed by second-tier analysis of glycosaminoglycans
저자
by
Herbst, Zackary M.
;
Hong, Xinying
;
Sadilek, Martin
;
Fuller, Maria
;
Gelb, Michael H.
.
소스
In
Molecular Genetics and Metabolism
November 2023 140(3)
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7 . Academic Journal
Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses: Accurate diagnosis and elimination of false positive newborn screening results
저자
by
Saville, Jennifer T.
;
Herbst, Zackary M.
;
Gelb, Michael H.
;
Fuller, Maria
.
소스
In
Molecular Genetics and Metabolism
November 2023 140(3)
Full Text (ScienceDirect)
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6 . Academic Journal
Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency
저자
by
Francyne Kubaski
;
Alberto Burlina
;
Danilo Pereira
;
Camilo Silva
;
Zackary M. Herbst
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-7 (2022)
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7 . Academic Journal
Pilot study of newborn screening for six lysosomal diseases in Brazil
저자
by
Kubaski, Francyne
;
Sousa, Ines
;
Amorim, Tatiana
;
Pereira, Danilo
;
Silva, Camilo
, et al.
소스
In
Molecular Genetics and Metabolism
July 2023
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7 . Academic Journal
Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis
저자
by
Herbst, Zackary M.
;
Hong, Xinying
;
Urdaneta, Leslie
;
Klein, Terri
;
Waggoner, Christine
, et al.
소스
In
Molecular Genetics and Metabolism
June 2023
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7 . Academic Journal
Corrigendum to ' Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry' [32/100888 (2022) page 1–4].
저자
by
Gabriel Civallero
;
Francyne Kubaski
;
Danilo Pereira
;
Gabriel Rübensam
;
Zackary M. Herbst
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 34, Iss , Pp 100945- (2023)
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7 . Academic Journal
Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency
저자
by
Kubaski, Francyne
;
Burlina, Alberto
;
Pereira, Danilo
;
Silva, Camilo
;
Herbst, Zackary M.
, et al.
소스
Orphanet Journal of Rare Diseases
. 17(1)
Open Access (BioMed Central)
Web of Science
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7 . Academic Journal
Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy
저자
by
Francyne Kubaski
;
Zackary M. Herbst
;
Maira Graeff Burin
;
Kristiane Michelin‐Tirelli
;
Franciele B. Trapp
, et al.
소스
JIMD Reports, Vol 63, Iss 2, Pp 162-167 (2022)
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7 . Academic Journal
Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency
저자
by
Lars Schlotawa
;
Karolina Tyka
;
Matthias Kettwig
;
Rebecca C Ahrens‐Nicklas
;
Matthias Baud
, et al.
소스
EMBO Molecular Medicine, Vol 15, Iss 3, Pp n/a-n/a (2023)
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7 . Academic Journal
Corrigendum to 'Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases' [27/100744/2021/ pages: 1-4]
저자
by
Francyne Kubaski
;
Zackary M. Herbst
;
Danilo A.A. Pereira
;
Camilo Silva
;
Christine Chen
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100943- (2022)
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