Literature DB >> 13415995

Cystinosis in an adult.

D G COGAN, T KUWABARA, J KINOSHITA, L SHEEHAN, L MEROLA.   

Abstract

Entities:  

Keywords:  CYSTINE/metabolism; METABOLIC DISEASES/case reports

Mesh:

Substances:

Year:  1957        PMID: 13415995     DOI: 10.1001/jama.1957.02980040034009

Source DB:  PubMed          Journal:  J Am Med Assoc        ISSN: 0002-9955


× No keyword cloud information.
  16 in total

1.  [Unclear, bilateral retinal dystrophy. 35-year old female patient with glare sensation].

Authors:  G Rössler; S Roters; M Severin; G K Krieglstein
Journal:  Ophthalmologe       Date:  2003-11       Impact factor: 1.059

2.  Lack of complementation in somatic cell hybrids between fibroblasts from patients with different forms of cystinosis.

Authors:  O L Pellett; M L Smith; A A Greene; J A Schneider
Journal:  Proc Natl Acad Sci U S A       Date:  1988-05       Impact factor: 11.205

Review 3.  Ophthalmic manifestations and histopathology of infantile nephropathic cystinosis: report of a case and review of the literature.

Authors:  Ekaterini Tsilou; Min Zhou; William Gahl; Pamela C Sieving; Chi-Chao Chan
Journal:  Surv Ophthalmol       Date:  2007 Jan-Feb       Impact factor: 6.048

Review 4.  Cystinosis: a review of the different forms and of recent advances.

Authors:  W Kroll; K H Lichte
Journal:  Humangenetik       Date:  1973

5.  Cystinosis: quantitative assay of cystine accumulation of homozygotes and heterozygotes.

Authors:  W Kroll; K H Lichte; P Lutz; R Maurer
Journal:  Humangenetik       Date:  1973

Review 6.  Ocular correlates of inborn metabolic defects.

Authors:  D G Cogan
Journal:  Can Med Assoc J       Date:  1966-11-19       Impact factor: 8.262

Review 7.  Lessons from inborn errors of metabolism.

Authors:  M D Milne
Journal:  Proc R Soc Med       Date:  1966-11

Review 8.  The efficacy of conjunctival biopsy as a screening technique in lysosomal storage disorders.

Authors:  M L Mazow
Journal:  Trans Am Ophthalmol Soc       Date:  1987

9.  The prognosis and management of renal tubular disorders.

Authors:  M D Milne
Journal:  Proc R Soc Med       Date:  1967-11-01

10.  Adult cystinosis: electron microscopy of the conjunctiva.

Authors:  F H Stefani; S Vogel
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1982       Impact factor: 3.117

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.