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    Results: 1 to 20 of 101

    1.

    Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients.

    Fiumara A, Barone R, Buttitta P, Di Pietro M, Scuderi A, Nigro F, Jaeken J.

    Br J Ophthalmol. 1994 Nov;78(11):845-6.PMID: 7848982 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    Full-field electroretinograms in patients with the carbohydrate-deficient glycoprotein syndrome.

    Andréasson S, Blennow G, Ehinger B, Strömland K.

    Am J Ophthalmol. 1991 Jul 15;112(1):83-6.PMID: 1715674 [PubMed - indexed for MEDLINE]Related articles

    3.

    Tapeto-retinal degeneration in four Norwegian counties, I. Diagnostic evaluation of 89 probands.

    Grøndahl J.

    Clin Genet. 1986 Jan;29(1):1-16.PMID: 3948427 [PubMed - indexed for MEDLINE]Related articles

    4.

    Carbohydrate-deficient glycoprotein (CDG) syndrome--a new variant, type III.

    Stibler H, Westerberg B, Hanefeld F, Hagberg B.

    Neuropediatrics. 1993 Feb;24(1):51-2. No abstract available. PMID: 8474612 [PubMed - indexed for MEDLINE]Related articles

    5.

    Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation.

    Smith PR, Bain SC, Good PA, Hattersley AT, Barnett AH, Gibson JM, Dodson PM.

    Ophthalmology. 1999 Jun;106(6):1101-8.PMID: 10366077 [PubMed - indexed for MEDLINE]Related articles

    6.

    [Carbohydrate-deficient-glycoprotein syndrome and ophthalmological manifestations]

    Voegtlé R, Laplace O, Nordmann JP.

    J Fr Ophtalmol. 2002 Apr;25(4):404-8. French. PMID: 12011746 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease.

    Stibler H, Blennow G, Kristiansson B, Lindehammer H, Hagberg B.

    J Neurol Neurosurg Psychiatry. 1994 May;57(5):552-6.PMID: 8201322 [PubMed - indexed for MEDLINE]Related articlesFree article

    8.

    Thyroid function tests and characterization of thyroxine-binding globulin in the carbohydrate-deficient glycoprotein syndrome type I.

    Macchia PE, Harrison HH, Scherberg NH, Sunthornthepfvarakul T, Jaeken J, Refetoff S.

    J Clin Endocrinol Metab. 1995 Dec;80(12):3744-9.PMID: 8530628 [PubMed - indexed for MEDLINE]Related articles

    9.

    Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene.

    Klevering BJ, van Driel M, van de Pol DJ, Pinckers AJ, Cremers FP, Hoyng CB.

    Br J Ophthalmol. 1999 Aug;83(8):914-8.PMID: 10413692 [PubMed - indexed for MEDLINE]Related articlesFree article

    10.

    Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders.

    Hagberg BA, Blennow G, Kristiansson B, Stibler H.

    Pediatr Neurol. 1993 Jul-Aug;9(4):255-62. Review.PMID: 8216537 [PubMed - indexed for MEDLINE]Related articles

    11.

    Neurophysiological findings in a case of carbohydrate-deficient glycoprotein (CDG) syndrome type I with phosphomannomutase deficiency.

    Veneselli E, Biancheri R, Di Rocco M, Tortorelli S.

    Eur J Paediatr Neurol. 1998;2(5):239-44.PMID: 10726826 [PubMed - indexed for MEDLINE]Related articles

    12.

    Cone dysfunction and supernormal scotopic electroretinogram with a high-intensity stimulus. A report of three cases.

    Kato M, Kobayashi R, Watanabe I.

    Doc Ophthalmol. 1993;84(1):71-81.PMID: 8223112 [PubMed - indexed for MEDLINE]Related articles

    13.

    Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.

    Fishman GA, Stone E, Gilbert LD, Vandenburgh K, Sheffield VC, Heckenlively JR.

    Ophthalmology. 1994 Aug;101(8):1409-21.PMID: 8058286 [PubMed - indexed for MEDLINE]Related articles

    14.

    [Visual acuity and full-field electroretinography in patients with Usher's syndrome]

    Mendieta L, Berezovsky A, Salomão SR, Sacai PY, Pereira JM, Fantini SC.

    Arq Bras Oftalmol. 2005 Mar-Apr;68(2):171-6. Epub 2005 May 18. Portuguese. PMID: 15905936 [PubMed - indexed for MEDLINE]Related articlesFree article

    15.

    Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome.

    Willemsen MA, Cruysberg JR, Rotteveel JJ, Aandekerk AL, Van Domburg PH, Deutman AF.

    Am J Ophthalmol. 2000 Dec;130(6):782-9.PMID: 11124298 [PubMed - indexed for MEDLINE]Related articles

    16.

    Ophthalmic manifestations of congenital disorder of glycosylation type 1a.

    Jensen H, Kjaergaard S, Klie F, Moller HU.

    Ophthalmic Genet. 2003 Jun;24(2):81-8.PMID: 12789572 [PubMed - indexed for MEDLINE]Related articles

    17.

    A unique pattern of coagulation abnormalities in carbohydrate-deficient glycoprotein syndrome.

    Van Geet C, Jaeken J.

    Pediatr Res. 1993 May;33(5):540-1.PMID: 8511030 [PubMed - indexed for MEDLINE]Related articles

    18.

    Alström syndrome--a case report and literature review.

    Karska-Basta I, Kubicka-Trzaska A, Filemonowicz-Skoczek A, Romanowska-Dixon B, Kobylarz J.

    Klin Oczna. 2008;110(4-6):188-92. Review.PMID: 18655459 [PubMed - indexed for MEDLINE]Related articles

    19.

    A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.

    de Lonlay P, Seta N, Barrot S, Chabrol B, Drouin V, Gabriel BM, Journel H, Kretz M, Laurent J, Le Merrer M, Leroy A, Pedespan D, Sarda P, Villeneuve N, Schmitz J, van Schaftingen E, Matthijs G, Jaeken J, Korner C, Munnich A, Saudubray JM, Cormier-Daire V.

    J Med Genet. 2001 Jan;38(1):14-9.PMID: 11134235 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    Evolution of ophthalmic and electrophysiological findings in identical twin sisters with the carbohydrate deficient glycoprotein syndrome type 1 over a period of 14 years.

    Casteels I, Spileers W, Leys A, Lagae L, Jaeken J.

    Br J Ophthalmol. 1996 Oct;80(10):900-2.PMID: 8976701 [PubMed - indexed for MEDLINE]Related articlesFree article

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