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Zackary M. Herbst

university of washington

H指数:11

被引数:400

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High precision newborn screening for mucopolysaccharidosis type I by enzymatic activity followed by endogenous, non-reducing end glycosaminoglycan analysis

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-02-010

PRE

Tandem mass spectrometric enzyme assay for simultaneous detection of Tay-Sachs and Sandhoff diseases in dried blood spots for newborn screening

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-08-010

PRE

Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry Analysis of Urinary Oligosaccharides and Glycoamino Acids for the Diagnosis of Mucopolysaccharidosis and Glycoproteinosis

CLINICAL CHEMISTRY

IF6.3

2024-04-101

PRE

Second-tier glycosaminoglycan analysis in dried blood spots by the endogenous non-reducing end method provides the best approach for reducing false positives in newborn screening of all sub-types of mucopolysaccharidoses

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-02-010

PRE

Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses: Accurate diagnosis and elimination of false positive newborn screening results

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-11-014

PRE

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

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-11-015

OAAI

Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-09-017

OAAI

Pilot study of newborn screening for six lysosomal diseases in Brazil

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-09-017

PRE

Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency

EMBO MOLECULAR MEDICINE

IF8.3

2023-02-156

OAAI

Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency

溶鞘磷脂的定量和lysosphingomyelin-509用于筛选酸性鞘磷脂酶缺乏症

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2022-11-0811

OAAI

Kubaski, Francyne; Burlina, Alberto; Pereira, Danilo; Silva, Camilo; Herbst, Zackary M.; Trapp, Franciele B.; Michelin-Tirelli, Kristiane; Lopes, Franciele F.; Burin, Maira G.; Brusius-Facchin, Ana Carolina; Netto, Alice B. O.; Poletto, Edina; Bernardes, Tamires M.; Carvalho, Gerson S.; Sorte, Ney B.; Ferreira, Fernanda N.; Perin, Nilza; Clivati, Marta R.; de Santana, Marnie T. S.; Lobos, Sandra F. G.; Leao, Emilia K. E. A.; Coutinho, Marcelo P.; Pinos, Paola, V; Santos, Maria L. S. F.; Penatti, Debora A.; Lourenco, Charles M.; Polo, Giulia; Giugliani, Roberto

Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C

INTERNATIONAL JOURNAL OF NEONATAL SCREENING

IF4

2022-06-282

OAAI

Prenatal diagnosis of mucopolysaccharidosis type VI by analysis of the amniotic fluid supernatant in the mass spectrometry era

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-02-010

PRE

Profile of disease-specific oligosaccharides in the cerebrospinal fluid of patients with mucopolysaccharidoses

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-02-010

PRE

Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type II

INTERNATIONAL JOURNAL OF NEONATAL SCREENING

IF4

2022-01-2114

OAAI

Screening for Niemann-Pick disease type C in Latin American using Lyso-SM-509 measurement in dried blood spots

MOLECULAR GENETICS AND METABOLISM

IF3.5

2021-02-010

PREAI

Newborn screening for six lysosomal diseases in Brazil: Pilot study update

MOLECULAR GENETICS AND METABOLISM

IF3.5

2021-02-010

PREAI

Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency

MOLECULAR GENETICS AND METABOLISM

IF3.5

2021-02-010

OAAI

Evaluation of Multiple Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis-I

INTERNATIONAL JOURNAL OF NEONATAL SCREENING

IF4

2020-08-2630

OAAI

Achieving Congruence among Reference Laboratories for Absolute Abundance Measurement of Analytes for Rare Diseases: Psychosine for Diagnosis and Prognosis of Krabbe Disease

INTERNATIONAL JOURNAL OF NEONATAL SCREENING

IF4

2020-03-3111

OAAI

Triazolopyrimidines and Imidazopyridines: Structure-Activity Relationships and in Vivo Efficacy for Trypanosomiasis

ACS MEDICINAL CHEMISTRY LETTERS

IF4

2018-12-0420

OAAI