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Alkaptonuria / Type I tyrosinemia / William A. Gahl / Tyrosinemia / Nitisinone / Ochronosis / Tyrosine / National Institutes of Health / Aortic valve replacement / Medicine / Health / Chemistry


NIH Public Access Author Manuscript Mol Genet Metab. Author manuscript; available in PMC 2012 August 1. NIH-PA Author Manuscript
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City

San Francisco / Rochester / Bedford / Tulsa / /

Company

Swedish Orphan Pharmaceuticals / Mayo Laboratory / AAI Pharma / Hologic Inc. / TECO Diagnostics / Garrod AE / /

Country

Germany / /

Currency

CRC / /

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Event

FDA Phase / /

Facility

Blood Institute / National Human Genome Research Institute / Eye Institute / Regional Medical Center / Children’s Hospital / University of Minnesota / National Institutes of Health Clinical Center / /

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IndustryTerm

Magnetic resonance imaging / software version / food diaries / /

MedicalCondition

Alkaptonuria Wendy J. Intronea / iron deficiency anemia / arthritis / Cardiac valvular disease / Kidney stones / Author Manuscript Alkaptonuria / sarcoidosis / Keywords Alkaptonuria / autosomal recessive disorder / MS / hepatorenal tyrosinemia / osteopenia / Baseline pulmonary function testing / rare / autosomal recessive disorder / valvular heart disease / hypertension / disease / early-onset destructive arthritis / osteophyte / cardiac arrhythmias / corneal irritation / chronic / progressively debilitating arthritis / Aortic stenosis / hyperlipidemia / corneal opacities / Pain / alkaptonuria / myocardial infarction / hereditary tyrosinemia / psychiatric disease / valvular disease / osteoporosis / cardiac disease / atrial fibrillation / irritation / deficiency / anemia / /

MedicalTreatment

surgery / protein restricted diet / protein-restricted diet / joint replacement / Pain management / hip replacement / /

Organization

Federal Aviation Administration / National Human Genome Research Institute / National Institute of Health / Regional Medical Center in Seattle / USA jNuclear Medicine Division / USA bClinical Center / Radiology and Imaging Sciences Department / Nutrition Coordinating Center / USA iNational Heart / Lung / and Blood Institute / Children’s Hospital / National Institutes of Health Clinical Center / Warren Clinic Center for Genetics / Center for Genetic Testing / Clinical Center / University of Minnesota / Genetics Department / Biostatistics Research / National Heart / Lung / and Blood Institute / /

Person

Vandana Sachdevi / William A. Gahla / Wendy J. Introne / Joy Bryanta / Elizabeth Moylanb / James C. Reynoldsj / Monique B. Perryb / James Troendlec / Isa Bernardinie / Michael A. Kaysere / /

Position

Director / National Institutes of Health / Bethesda / registered dietician / Corresponding author / Author / Governor / Clinical Director / /

Product

Orfadin / acetic acid / prednisone / nitro / homogentisic / /

ProvinceOrState

Minnesota / Maryland / Connecticut / Washington / California / /

Technology

ultrasound / IRB-approved protocol / Human Genome / PDF / MRI / Magnetic resonance imaging / /

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