Muriel I. Kaiser‐Kupfer

Medicine · Health Sciences

50h-index7.1kcitations132works0.02yr avg
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Research Topics

Biomedical Research and Pathophysiology(22), Retinal Development and Disorders(21), Amino Acid Enzymes and Metabolism(17), Glaucoma and retinal disorders(16), Neonatal Health and Biochemistry(15)

Publications131 total

At least two mutant alleles of ornithine 6-aminotransferase cause gyrate atrophy of the choroid and retina in Finns (RNase A protection/polymerase chain reaction/hyperornithinemia/chorioretinal degeneration/missense mutation)
2016
Nephropathic Cystinosis
Ophthalmology·2006· 85 cited
Use of nitisinone in patients with alkaptonuria
Metabolism·2005· 161 citedOpen Access
Eyelid myxoma in Carney complex without <i>PRKAR1A</i> allelic loss
American Journal of Medical Genetics Part A·2004· 24 cited
Milder ocular findings in Hermansky–Pudlak syndrome type 3 compared with Hermansky–Pudlak syndrome type 1
Ophthalmology·2004· 27 cited
Cellular, Molecular and Clinical Characterization of Patients with Hermansky–Pudlak Syndrome Type 5
Traffic·2004· 70 citedOpen Access
Use of an Arginine-Restricted Diet to Slow Progression of Visual Lossin Patients With Gyrate Atrophy
Archives of Ophthalmology·2004· 70 cited
Bilateral late posterior chamber intraocular lens dislocation with the capsular bag in a patient with gyrate atrophy
Journal of Cataract & Refractive Surgery·2004· 15 cited
Color discrimination in gyrate atrophy of the choroid and retina
Investigative Ophthalmology & Visual Science·2004
Eye Movements in Hermansky–Pudlak Syndrome
2004· 1 cited
Bietti Crystalline Corneoretinal Dystrophy Is Caused by Mutations in the Novel Gene CYP4V2
The American Journal of Human Genetics·2004· 281 citedOpen Access
Keratopathy of Multiple Myeloma Masquerading as Corneal Crystals of Ocular Cystinosis
Mayo Clinic Proceedings·2004· 28 cited
Eyelid Myxoma in Carney Complex: Prevalence, Histo-pathology & Genetics
2003
Fast and Slow Oscillations of the Electro-oculogram in Stargardt's Disease
Investigative Ophthalmology & Visual Science·2003· 1 cited
Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases
Human Mutation·2002· 63 citedOpen Access
Menkes’ syndrome
Ophthalmology·2002· 40 cited
Retinal visualization in an eye with corneal crystals using indocyanine green videoangiography
American Journal of Ophthalmology·2002· 7 cited
Loss of heterozygosity for the <i>NF2</i> gene in retinal and optic nerve lesions of patients with neurofibromatosis 2
The Journal of Pathology·2002· 34 citedOpen Access
Usher syndrome clinical types I and II: Could ocular symptoms and signs differentiate between the two types?
Acta Ophthalmologica Scandinavica·2002· 62 citedOpen Access
Age-Related Prevalence of Anterior Segment Complications in Patients With Infantile Nephropathic Cystinosis
Cornea·2002· 61 cited
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Frequent Co-authors

Fumino Iwata(10), William A. Gahl(9), Rafael C. Caruso(8), Dilys M. Parry(5), J. Fielding Hejtmancik(5), Toichiro Kuwabara(5), Benjamin I. Rubin(4), William A. Gahl(4), Marjan Huizing(4), George F. Reed(4), Anita Pikus(3), Vorasuk Shotelersuk(3), Ernest M. Kuehl(3), Isa Bernardini(3), Xiaodong Jiao(3), Grant A. Mitchell(3), Gary Steel(3), David Valle(3), Carl Kupfer(3), June Lee(3)