Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease

Orphanet Journal of Rare Diseases - Tập 13 Số 1 - 2018
Jennifer M. Kwon1, Dietrich Matern2, Joanne Kurtzberg3, Lawrence Wrabetz4, Michael H. Gelb5, David A. Wenger6, Can Fıçıcıoğlu7, Amy Waldman8, Barbara K. Burton9, Patrick V. Hopkins10, Joseph J. Orsini11
1University of Rochester Medical Center, 601 Elmwood Avenue, Box 631, Rochester, NY, 14642, USA
2Biochemical Genetics Laboratory, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA,
3Pediatric Blood and Marrow Transplant Program, Duke University Medical Center, 2400 Pratt Street, Durham, NC, 27705, USA
4Hunter James Kelly Research Institute (HJKRI), University at Buffalo Jacobs School of Medicine and Biomedical Sciences, NYS Center of Excellence, 701 Ellicott St, Buffalo, NY, 14203, USA
5Department of Chemistry and Biochemistry, University of Washington, Seattle, WA 98195, USA
6Sidney Kimmel Medical College, 1020 Locust St, Room 346, Philadelphia, PA, 19107, USA
7The Children's Hospital of Philadelphia, Division of Human Genetics and Metabolism, 3501 Civic Center Blvd., Philadelphia, PA, 19104, USA
8The Children's Hospital of Philadelphia, Leukodystrophy Center, Division of Neurology, 34th Street and Civic Center Boulevard, Philadelphia, PA, 19104, USA
9Ann & Robert H. Lurie Children's Hospital, 225 E. Chicago Avenue, Chicago, IL, 60611, USA
10Newborn Screening Unit Missouri State Public Health Laboratory, 101 N. Chestnut St., PO Box 570, Jefferson City, MO, 65102-0570, USA
11Wadsworth Center, New York State Department of Health, Newborn Screening Program, David Axelrod Institute, 120 New Scotland Ave., Albany, NY, 12201, USA

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Orphanet Journal of Rare Diseases

Tập 13 Số 1

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