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The National Organization for Rare Disorders NORD Guides for Physicians #11 Physician’s Guide to
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Document Date: 2012-12-18 11:57:21


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City

Danbury / Franklin / /

Company

CBS / /

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Event

FDA Phase / Product Issues / /

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IndustryTerm

carrier parents / Rare Disease Therapeutics / /

MedicalCondition

Myopia / microcephaly / chest deformities / rare diseases / seizures / Urea Cycle Disorders / Recessive genetic disorders / arachnodactyly / homocystinuria Classic homocystinuria / coma / blood clots / Classic homocystinuria / disorder / extremely rare disorder / newborn screening classic homocystinuria / scoliosis / Primary Lateral Sclerosis / Pompe Disease / homocystinuria / pyridoxine nonresponsive homocystinuria / megaloblastic anemia / blood vessel disease / lack of coordination / Hereditary Ataxia / MTHFR deficiency MTHFR deficiency / disease / Ornithine Transcarbamylase Deficiency / stroke / cognitive impairment / Thromboembolism / hypopigmentation / Giant Hypertrophic Gastritis / Amyloidosis / Multiple System Atrophy / Medullary Thyroid Cancer / rare disorders / pancreatitis / synthase deficiency / Osteoporosis / MTHFR deficiency / hypotonia / dystonia / deficiency / Menetrier’s Disease / genetic metabolic disorders / nearsightedness / Ectopia lentis / disorders / pyridoxine responsive homocystinuria / /

MedicalTreatment

surgery / low-protein diet / /

Organization

Children's Hospital Boston / National Organization for Rare Disorders NORD Guides for Physicians / Harvard / U.S. Food and Drug Administration / National Organization for Rare Disorders / /

Person

Harvey L. Levy / /

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Position

Physician / Professor of Pediatrics / Pediatrician / following physician / /

Product

Cystadane / folic acid / hydroxocobalamin / Cystadane® / activity / gene / /

ProvinceOrState

Connecticut / Tennessee / /

URL

www.rarediseases.org / www.raretx.com / http /

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