Muriel I Kaiser-Kupfer
Overview
Explore the profile of Muriel I Kaiser-Kupfer including associated specialties, affiliations and a list of published articles.
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12
Citations
224
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Recent Articles
1.
Tsilou E, Rubin B, Reed G, Caruso R, Iwata F, Balog J, et al.
Ophthalmology
. 2006 Apr;
113(6):1002-9.
PMID: 16603246
Purpose: Cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by the intracellular accumulation of cystine. Treatment involves intracellular cystine depletion with oral cysteamine. A wide spectrum of ocular...
2.
Suwannarat P, OBrien K, Perry M, Sebring N, Bernardini I, Kaiser-Kupfer M, et al.
Metabolism
. 2005 Jun;
54(6):719-28.
PMID: 15931605
Alkaptonuria, a rare autosomal recessive disorder caused by mutations in the HGD gene and deficiency of homogentisate 1,2 dioxygenase, is characterized by ochronosis, arthritis, and daily excretion of gram quantities...
3.
Huizing M, Hess R, Dorward H, Claassen D, Helip-Wooley A, Kleta R, et al.
Traffic
. 2004 Aug;
5(9):711-22.
PMID: 15296495
Hermansky-Pudlak syndrome (HPS) is a disorder of lysosome-related organelles such as melanosomes and platelet dense granules. Seven genes are now associated with HPS in humans. An accurate diagnosis of each...
4.
Tsilou E, Rubin B, Reed G, McCain L, Huizing M, White J, et al.
Ophthalmology
. 2004 Aug;
111(8):1599-603.
PMID: 15288994
Purpose: To compare clinically 2 different subtypes of Hermansky-Pudlak syndrome (HPS), type 1 (HPS-1) and type 3 (HPS-3). Design: Cross-sectional study of a series of patients. Participants: Sixteen patients with...
5.
Kaiser-Kupfer M, Caruso R, Valle D, Reed G
Arch Ophthalmol
. 2004 Jul;
122(7):982-4.
PMID: 15249361
Objective: To quantify the effect of long-term reduction of plasma ornithine levels through adherence to an arginine-restricted diet on visual function in patients of all ages with gyrate atrophy of...
6.
Kleta R, Blair S, Bernardini I, Kaiser-Kupfer M, Gahl W
Mayo Clin Proc
. 2004 Mar;
79(3):410-2.
PMID: 15008615
We describe a 49-year-old woman in whom ocular cystinosis was diagnosed on the basis of a routine eye examination 12 years previously. Conjunctival biopsy was reported to support the diagnosis....
7.
Chan C, Datiles M, Kaiser-Kupfer M, Kupfer C
Arch Ophthalmol
. 2003 Apr;
121(4):582-3.
PMID: 12695262
No abstract available.
8.
Hermos C, Huizing M, Kaiser-Kupfer M, Gahl W
Hum Mutat
. 2002 Nov;
20(6):482.
PMID: 12442288
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder causing oculocutaneous albinism and a platelet storage pool deficiency, reflecting defective biosynthesis and/or processing of melanosomes and platelet dense bodies. Four human...
9.
Chan C, Koch C, Kaiser-Kupfer M, Parry D, Gutmann D, Zhuang Z, et al.
J Pathol
. 2002 Sep;
198(1):14-20.
PMID: 12210058
Individuals affected with the neurofibromatosis 2 (NF2) cancer predisposition syndrome develop specific ocular lesions. To determine whether these lesions result from altered NF2 gene expression, microdissection and PCR were used...
10.
Tsilou E, Rubin B, Caruso R, Reed G, Pikus A, Hejtmancik J, et al.
Acta Ophthalmol Scand
. 2002 Apr;
80(2):196-201.
PMID: 11952489
Purpose: Usher syndrome types I and II are clinical syndromes with substantial genetic and clinical heterogeneity. We undertook the current study in order to identify ocular symptoms and signs that...