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Two-tiered newborn screening for infantile Krabbe disease allows timely treatment initiation and avoids false-positive results.

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Title: Two-tiered newborn screening for infantile Krabbe disease allows timely treatment initiation and avoids false-positive results.
Authors: Hall PL; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN. Electronic address: hall.patricia@mayo.edu., White AL; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Peck D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Pino G; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Studinski A; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Gavrilov D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Oglesbee D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Schultz MJ; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Tortorelli S; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Matern D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Apr; Vol. 28 (4), pp. 101572. Date of Electronic Publication: 2025 Aug 29.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
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  Data: Two-tiered newborn screening for infantile Krabbe disease allows timely treatment initiation and avoids false-positive results.
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  Data: <searchLink fieldCode="AU" term="%22Hall+PL%22">Hall PL</searchLink>; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN. Electronic address: hall.patricia@mayo.edu.<br /><searchLink fieldCode="AU" term="%22White+AL%22">White AL</searchLink>; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.<br /><searchLink fieldCode="AU" term="%22Peck+D%22">Peck D</searchLink>; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.<br /><searchLink fieldCode="AU" term="%22Pino+G%22">Pino G</searchLink>; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.<br /><searchLink fieldCode="AU" term="%22Studinski+A%22">Studinski A</searchLink>; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.<br /><searchLink fieldCode="AU" term="%22Gavrilov+D%22">Gavrilov D</searchLink>; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.<br /><searchLink fieldCode="AU" term="%22Oglesbee+D%22">Oglesbee D</searchLink>; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.<br /><searchLink fieldCode="AU" term="%22Schultz+MJ%22">Schultz MJ</searchLink>; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.<br /><searchLink fieldCode="AU" term="%22Tortorelli+S%22">Tortorelli S</searchLink>; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.<br /><searchLink fieldCode="AU" term="%22Matern+D%22">Matern D</searchLink>; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
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              Text: 2026 Apr
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