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B vitamins / Thiols / Alcohols / Homocystinuria / Glucogenic amino acids / Proteinogenic amino acids / Homocysteine / Hyperhomocysteinemia / Vitamin B12 / Chemistry / Health / Nutrition


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City

Nijmegen / Manchester / Bromberg / St. Louis / Ramsey / Dublin / Lancaster / Raleigh / New York / Sydney / Beaudet / Berlin / London / /

Company

CbS / MTP Press Limited / McGraw-Hill / Shipman RT. / Simmons / Rohr / Matsuda / Lilly / GE / CV Mosby Co / John Wiley & Sons Inc / Churchill Livingston Ltd. / HP / Linnebank / /

Country

Japan / Australia / United Kingdom / Denmark / Northern Ireland / Ireland / /

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Event

Product Issues / Judicial Event / /

Facility

The Childrens University Hospital / Our Ladys Hospital / Temple Street / Hall JG / /

IndustryTerm

aqueous solution / grand mal type accounting / Rapid amino acid analyser systems / late-detected / organ systems / /

MedicalCondition

myopia / seizures / developmental delay/mental retardation / retinal detachment / early vascular disease / convulsion / clinical disease / pectus excavatum / such high myopia / cystathionine β-synthase deficiency / Disease name Homocystinuria / Classical homocystinuria / lenticular myopia / phenylketonuria / scoliosis / homocystinuria / high myopia / mental retardation / high non-corneal astigmatism / schizophrenia / pes cavus / personality disorder / spinal osteoporosis / Sufin.Yap@tsch.ie Abstract Keywords Disease / acute pupillary block glaucoma / unusual myopia / thromboembolism / severe hypertension / Marfan syndrome / kyphosis / diseases / osteoporosis / Inborn errors of metabolism / deficiency / homocystinuria / homocysteinemia Yap / CbS deficiency / fatal pulmonary emboli / ectopia lentis / disorders / glaucoma / astigmatism / optic atrophy / episodic depression / frequent central nervous system abnormality / lens dislocation / Frank mental retardation / chronic treatment If / severe clinical disease / progressive myopia / chronic treatment References Abstract Classical homocystinuria / chronic obsessive-compulsive disorder / hemiparesis / Cerebral thrombosis / mental illness / Central nervous system involvement Mental retardation / dense cataract / MS / anterior chest wall deformities / hypotension / chronic disorders / inherited metabolic disorders / Thrombophlebitis / disease / cystinuria / mental deficiency / Clinically significant psychiatric illness / chronic cor pulmonale / ataxia and sensory neuropathy / myocardial infarction / Sagittal sinus thrombosis / strabismus / cyst / Thrombosis / McKusick cystathionine b-synthase deficiency / unilateral blindness / recessively inherited disorder / Marfan’s syndrome / dehydration / /

MedicalTreatment

oral contraceptives / surgery / major surgeries / eye operations / /

Organization

Ladys Hospital for Sick Children / Childrens University Hospital / National Centre for Inherited Metabolic Disorders / /

Person

Charlie Chaplin-like / Jean-Marie Saudubray / Wynne-Davies R. Homocystinuria / Arch Ophthamol / Pyridoxine / Arch Dis Child / /

Position

Professor / Major / representative / Scientific Editor / cystathionine β-synthase deficiency Author / /

Product

folic acid / dipyridamole / sodium nitroprusside / patients / fetus / metabolism / cases / individual / two unaffected fetuses / individuals / /

ProvinceOrState

Virginia / Alabama / Mississippi / Illinois / New South Wales / North Carolina / /

RadioStation

Am 1969 / /

Region

South Wales / /

Technology

electrophoresis / /

URL

http /

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