Adult Medical Issues in Cystinosis--William Gahl, M.D.

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Band keratopathy ina 14-year old girl
22-year old withcystinosis,myopathy, andswallowingdifficulty. Died ofaspiration.Cystinosis patientwith atrophy oftongue muscles.
Page 1 and 2: Section on Human Biochemical Geneti
Page 3 and 4: CYSTINOSIS NATURAL HISTORYAgeBirthI
Page 5: CYSTINOSIS NATURAL HISTORYPost-Tran
Page 9 and 10: Cystine crystalsin muscleCystine cr
Page 11 and 12: Swallowing DifficultyPooling invall
Page 13 and 14: Coronary Artery CalcificationCorona
Page 15 and 16: Cerebral atrophyin a 24-year oldman
Page 17 and 18: Gastric varixDuodenal varix
Page 19 and 20: 100 Nephropathic CystinosisAdults (
Page 21 and 22: Adult Cystinosis Patients(NIH, 1986
Page 25 and 26: NIH Intent-to-treat Analysis forOra
Page 29 and 30: 4Muscle Cystine321No Cysteamine010
Page 31 and 32: CYSTEAMINE EYEDROPSUntreated Treate
Page 33 and 34: Pre-transplant, oral cysteaminether
Page 35 and 36: Post-Transplant CystinosisComplicat
Page 37 and 38: 101 Cystinosis Patients4.54Swallowi
Page 39 and 40: 60%50%n=1040%n=3830%% OF PATIENTS W
Page 41 and 42: 100%90%n=28n=10% OF PATIENTS WITH P
Page 43 and 44: 100 Adult Cystinosis PatientsCystea
Page 45 and 46: 100 Adult Cystinosis PatientsCholes
Page 47 and 48: Effect of Oral Cysteamine onthe Lat
Page 52 and 53: Nephrogenic FibrosingDermopathy
Page 54 and 55: NFD: More than skin deep• Patholo
Page 56 and 57:
June 2006 (25 cases); updated Decem
Page 58:
Risk Mitigation Strategy• Elimina
Page 61 and 62:
Transmission EMof conjunctival cell
Page 63 and 64:
N=89 N=32 N=24 N=9100%90%80%70%60%5
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Adult Medical Issues in Cystinosis--William Gahl, M.D.

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