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Peroxisomal disorders / Adrenoleukodystrophy / Adrenomyeloneuropathy / ABCD1 / The Myelin Project / Medical genetics / Newborn screening / Niemann–Pick disease / Peroxisome / Health / Medicine / Rare diseases


Microsoft PowerPoint - DACHDNC_XALD-Nomination_Matern_2014[removed]pptx
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Document Date: 2014-01-22 13:13:00


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Company

Wilson / /

Country

United States / Netherlands / /

/

Facility

Pediatrics Biochemical Genetics Laboratory Mayo Clinic College of Medicine / Mayo Clinic / Laboratory Medicine / Eunice Kennedy Shriver National Institute of Child Health / /

IndustryTerm

carrier females / analytical protocols / oil / /

MedicalCondition

Ataxia / ADHD / disease / Most common peroxisomal disorder / adrenomyeloneuropathy / Wilson Disease / Family investigations Adrenomyeloneuropathy / X‐Adrenoleukodystrophy / relevant peroxisomal disorders / ALDP deficiency / vegetative state / progressive inflammatory demyelination / MS / hereditary spastic paraparesis / progressive spastic paraplegia / disorders / /

MedicalTreatment

hormone replacement / /

Organization

Laboratory Medicine / Medical Genetics / and Pediatrics Biochemical Genetics Laboratory Mayo Clinic College of Medicine / Angels Foundation / Stop ALD Foundation / Eunice Kennedy Shriver National Institute of Child Health and Human Development / Department of Health and Human Services / /

Person

Charles Peters / Fred Lorey John / Dietrich Matern / /

/

Position

Advocate / Professor / /

ProvinceOrState

Mississippi / New York / /

Technology

transplantation / genotyping / genotype / apoptosis / /

URL

www.acmg.net / www.nbstrn.org/research-tools/lab-performance-database / /

SocialTag