Isa Bernardini
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Explore the profile of Isa Bernardini including associated specialties, affiliations and a list of published articles.
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Recent Articles
11.
Ueda M, OBrien K, Rosing D, Ling A, Kleta R, McAreavey D, et al.
Clin J Am Soc Nephrol
. 2007 Aug;
1(3):555-62.
PMID: 17699259
Cystinosis, an autosomal recessive disorder of lysosomal cystine accumulation, results from mutations in the CTNS gene that encodes the lysosomal cystine transporter, cystinosin. Renal tubular Fanconi syndrome occurs in infancy,...
12.
OBrien K, Hussain N, Warady B, Kleiner D, Kleta R, Bernardini I, et al.
Clin Gastroenterol Hepatol
. 2006 Mar;
4(3):387-94.
PMID: 16527704
Background & Aims: Cystinosis is a rare autosomal-recessive disorder characterized by the intralysosomal accumulation of cystine, which is responsible for widespread tissue destruction. Liver biopsy specimens of patients with cystinosis...
13.
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...
14.
Sonies B, Almajid P, Kleta R, Bernardini I, Gahl W
Medicine (Baltimore)
. 2005 May;
84(3):137-146.
PMID: 15879904
Nephropathic cystinosis is a rare, autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene that codes for a cystine transporter in the lysosomal membrane. Affected patients store...
15.
Suwannarat P, Phornphutkul C, Bernardini I, Turner M, Gahl W
Arthritis Rheum
. 2004 Nov;
50(11):3698-701.
PMID: 15529343
Alkaptonuria, a rare autosomal-recessive disorder caused by mutations in the HGD gene and a deficiency of homogentisate 1,2-dioxygenase, is characterized by accumulation of homogentisic acid (HGA), ochronosis, and destruction of...
16.
Kleta R, Bernardini I, Ueda M, Varade W, Phornphutkul C, Krasnewich D, et al.
J Pediatr
. 2004 Oct;
145(4):555-60.
PMID: 15480385
We report the excellent clinical outcomes of siblings with nephropathic cystinosis treated diligently with cysteamine starting at 20 months and 2 months of age. Now 15 and 8 years old,...
17.
Kleta R, Romeo E, Ristic Z, Ohura T, Stuart C, Arcos-Burgos M, et al.
Nat Genet
. 2004 Aug;
36(9):999-1002.
PMID: 15286787
Hartnup disorder, an autosomal recessive defect named after an English family described in 1956 (ref. 1), results from impaired transport of neutral amino acids across epithelial cells in renal proximal...
18.
Kleta R, Morse R, Orvisky E, Krasnewich D, Alroy J, Ucci A, et al.
Mol Genet Metab
. 2004 Jun;
82(2):137-43.
PMID: 15172001
The allelic autosomal recessive lysosomal storage disorders Salla disease and infantile free sialic acid storage disease (ISSD) result from mutations in SLC17A5. This gene codes for sialin, a lysosomal membrane...
19.
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....
20.
Grier R, Gahl W, Cowan T, Bernardini I, McDowell G, Rinaldo P
Genet Med
. 2004 Jan;
6(1):66-8.
PMID: 14726814
Determination of plasma amino acid levels has become a key piece of information in the diagnosis and clinical management of a group of metabolic genetic disorders. Appropriate laboratory methodologies have...