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Results 1 to 25 of 2878

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Lipoid proteinosis : A case reportRIZZO, R; RUGGIERI, M; MICALI, G et al.Pediatric dermatology. 1997, Vol 14, Num 1, pp 22-25, issn 0736-8046Conference Paper

Fluorescence-based diagnosis of lipid storage diseases by analysis of the culture medium of skin fibroblastsVERED, A; EUGENIO, M; ARIE, D et al.Clinica chimica acta. 1993, Vol 218, Num 2, pp 139-147, issn 0009-8981Article

Wolman's disease in an infantBROWNE, Martin; SOMERS, Gino; SAVOIA, Helen et al.British journal of haematology. 2003, Vol 122, Num 4, issn 0007-1048, p. 522Article

Clinical features and molecular genetic basis of the neuronal ceroid lipofuscinosesGARDINER, R. Mark.Advances in neurology. 2002, Vol 89, pp 211-215, issn 0091-3952, 5 p.Conference Paper

Consanguin : Journées francophones de pathologie digestive = Lipoid proteinosisFENNICHE, Samy; BEN AMMAR, Feiza; KHAYAT, Olfa et al.Concours médical (Paris). 2003, Vol 125, Num 20, pp 1149-1150, issn 0010-5309, 2 p.Article

Juvenile neuronal ceroid lipofuscinosisGULATI, Sheffali; MAHESHWARI, Rajesh; KABRA, Madhulika et al.Indian journal of pediatrics. 2000, Vol 67, Num 9, pp 689-691, issn 0019-5456Conference Paper

When chest pain reveals a Fabry diseaseLIDOVE, Olivier; IUNG, Bernard; HAPPLE, Rudolf et al.La Presse médicale (1983). 2011, Vol 40, Num 5, pp 540-544, issn 0755-4982, 5 p.Article

Distal Extremity Pain as a Presenting Feature of Fabry's DiseasePAGNINI, Ilaria; BORSINI, Walter; CECCHI, Franco et al.Arthritis care and research. 2011, Vol 63, Num 3, pp 390-395, issn 0893-7524, 6 p.Article

Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficitsABEL, L. A; WALTERFANG, M; FIETZ, M et al.Neurology. 2009, Vol 72, Num 12, pp 1083-1086, issn 0028-3878, 4 p.Article

Randomized, Controlled Trial of Miglustat in Gaucher's Disease Type 3SCHIFFMANN, Raphael; FITZGIBBON, Edmond J; VELLODI, Ashok et al.Annals of neurology. 2008, Vol 64, Num 5, pp 514-522, issn 0364-5134, 9 p.Article

Phenotype of adult Refsum disease due to a defect in peroxin 7HORN, M. A; VAN DEN BRINK, D. M; WANDERS, R. J. A et al.Neurology. 2007, Vol 68, Num 9, pp 698-700, issn 0028-3878, 3 p.Article

Maladie de Gaucher. Compte-rendu des Secondes Rencontres Multidisciplinaires sur la maladie de Gaucher (Paris, 12 et 13 mai 2006) = Gaucher disease. Report on the Second Multidisciplinary Meeting on Gaucher disease (Paris, May 12-13, 2006)La Revue de médecine interne (Paris). 2007, Vol 28, issn 0248-8663, 42 p., SUP2Conference Proceedings

Fabry disease : An atypical presentationCHOUDHURY, Sourab; MEEHAN, Shane; SHIN, Helen T et al.Pediatric dermatology. 2005, Vol 22, Num 4, pp 334-337, issn 0736-8046, 4 p.Article

The neuronal ceroid-lipofuscinosesHALTIA, Matti.Journal of neuropathology and experimental neurology. 2003, Vol 62, Num 1, pp 1-13, issn 0022-3069, 13 p.Article

Normal fluorine-18-labelled 2-fluoro-2-deoxyglucose positron emission tomography and magnetic resonance imaging of the brain in Wolman diseaseAL-ESSAL, M. A; BAKHEET, S. M; PATAY, Z. J et al.Journal of inherited metabolic disease. 1999, Vol 22, Num 7, pp 846-848, issn 0141-8955Article

Chloroquin und Chlorphentermin induzierte Lipidose der Rattenretina = Chloroquine- and chlorphentermin-induced lipidosis in rat retinaBREDEHORN, T; DUNCKER, G. I. W.Klinische Monatsblätter für Augenheilkunde. 1999, Vol 214, Num 3, pp 178-182, issn 0023-2165Article

Broad screening test for sphingolipid-storage diseasesCHEN, C.-S; PATTERSON, M. C; WHEATLEY, C. L et al.Lancet (British edition). 1999, Vol 354, Num 9182, pp 901-905, issn 0140-6736Article

Erdheim-Chester disease : radiographic findings in five patientsBANCROFT, L. W; BERQUIST, T. H.Skeletal radiology. 1998, Vol 27, Num 3, pp 127-132, issn 0364-2348Article

Characterization of serum lipoprotein profiles of healthy, adult cats and idiopathic feline hepatic lipidosis patientsPAZAK, H. E; BARTGES, J. W; CORNELIUS, L. C et al.The Journal of nutrition. 1998, Vol 128, Num 12, pp 2747S-2750S, issn 0022-3166, SUPConference Paper

Chloroquine-induced lipidosis in the rat retina : functional and morphological changes after withdrawal of the drugDUNCKER, G; BREDEHORN, T.Graefe's archive for clinical and experimental ophthalmology. 1996, Vol 234, Num 6, pp 378-381, issn 0721-832XArticle

Recent advances in the molecular genetics of the neuronal ceroid lipofuscinosesMOLE, S. E.Journal of inherited metabolic disease. 1996, Vol 19, Num 3, pp 269-274, issn 0141-8955Article

The anesthetic management of a patient with Fabry's diseaseWATANABE, H; AOKI, T; ONO, A et al.Masui. 1995, Vol 44, Num 9, pp 1258-1260, issn 0021-4892Article

Localised histiocytic lipofuscinosis : an unusual pigmented lesionMOONEY, E. E; SWEENEY, E.The American journal of dermatopathology. 1993, Vol 15, Num 4, pp 368-371, issn 0193-1091Article

A Rare Dementing Disease: Adult Neuronal Ceroid LipofuscinosesBABACAN-YILDIZ, Gulsen; HANAGASI, Hasmet; GURVIT, Hakan et al.The Journal of neuropsychiatry and clinical neurosciences. 2012, Vol 24, Num 4, pp 493-498, issn 0895-0172, 6 p.Article

Highly Phosphomannosylated Enzyme Replacement Therapy for GM2 GangliosidosisTSUJI, Daisuke; AKEBOSHI, Hiromi; SAKURABA, Hitoshi et al.Annals of neurology. 2011, Vol 69, Num 4, pp 691-701, issn 0364-5134, 11 p.Article

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