Publications by authors named "Muriel Kaiser-Kupfer"

17Publications

Nephropathic cystinosis: posterior segment manifestations and effects of cysteamine therapy.

Ophthalmology 2006 Jun 17;113(6):1002-9. Epub 2006 Apr 17.

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892 , USA.

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June 2006

Use of nitisinone in patients with alkaptonuria.

Metabolism 2005 Jun;54(6):719-28

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-1852, USA.

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June 2005

Eyelid myxoma in Carney complex without PRKAR1A allelic loss.

Am J Med Genet A 2004 Nov;130A(4):395-7

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, 10 Center Drive, MSC-1860, Bldg. 10 Room 10N226, Bethesda, MD 20892, USA.

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November 2004

Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.

Traffic 2004 Sep;5(9):711-22

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.

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September 2004

Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1.

Ophthalmology 2004 Aug;111(8):1599-603

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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August 2004

Use of an arginine-restricted diet to slow progression of visual loss in patients with gyrate atrophy.

Arch Ophthalmol 2004 Jul;122(7):982-4

Ophthalmic Genetics and Visual Function Branch, Division of Epidemiology and Clinical Research, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.

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July 2004

Bilateral late posterior chamber intraocular lens dislocation with the capsular bag in a patient with gyrate atrophy.

J Cataract Refract Surg 2004 Jul;30(7):1593-4

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, 10 Center Drive, MSC-1860, Building 10, Room 10N226, Bethesda, MD 20892, USA.

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July 2004

Keratopathy of multiple myeloma masquerading as corneal crystals of ocular cystinosis.

Mayo Clin Proc 2004 Mar;79(3):410-2

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-1851, USA.

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March 2004

Congenital iridocorneal malformation in Rieger syndrome.

Arch Ophthalmol 2003 Apr;121(4):582-3

NIH/NEI, Bethesda, Md 20892-1857, USA.

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April 2003

Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases.

Hum Mutat 2002 Dec;20(6):482

Heritable Disorders Branch, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland 20892-1851, USA.

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December 2002

Menkes' syndrome: ophthalmic findings.

Ophthalmology 2002 Aug;109(8):1477-83

Washington National Eye Center, Washington Hospital Center, DC, USA.

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August 2002

Retinal visualization in an eye with corneal crystals using indocyanine green videoangiography.

Am J Ophthalmol 2002 Jul;134(1):123-5

Ophthalmic Genetics and Visual Function Branch, National Institutes of Health, Bethesda, MD 20892, USA.

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July 2002

Usher syndrome clinical types I and II: could ocular symptoms and signs differentiate between the two types?

Acta Ophthalmol Scand 2002 Apr;80(2):196-201

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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April 2002

Age-related prevalence of anterior segment complications in patients with infantile nephropathic cystinosis.

Cornea 2002 Mar;21(2):173-6

Ophthalmic Genetics and Visual Function Branch, Division of Biometry and Epidemiology, National Eye Institute, National Institutes of Health, 10 Center Drive, Bldg 10,Rm 10N226, Bethesda, MD 20892, U.S.A.

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March 2002

Gyrate atrophy of the choroid and retina: further experience with long-term reduction of ornithine levels in children.

Arch Ophthalmol 2002 Feb;120(2):146-53

NEI-NIH, 10 Center Dr MSC 1860, Bldg 10, Room 10N226, Bethesda, MD 20892-1860, USA.

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February 2002