Lymphocytic vacuolization in sialic acid storage diseaseKUSKONMAZ, Baris; UNAL, Sule; CÖRDÜKCÜ, Emine et al.American journal of hematology. 2008, Vol 83, Num 10, pp 821-821, issn 0361-8609, 1 p.Article

SANDO: Another presentation of mitochondrial diseaseOKUN, Michael S; TARIQ BHATTI, M.American journal of ophthalmology. 2004, Vol 137, Num 5, pp 951-953, issn 0002-9394, 3 p.Article

COMMD1 (MURR1) as a candidate in patients with copper storage disease of undefined etiologyCORONADO, V. A; BONNEVILLE, J. A; NAZER, H et al.Clinical genetics. 2005, Vol 68, Num 6, pp 548-551, issn 0009-9163, 4 p.Article

Jordans' anomaly in a new neutral lipid storage diseasePIVA, Elisa; PAJOLA, Rachele; BINOTTO, Gianni et al.American journal of hematology. 2009, Vol 84, Num 4, pp 254-255, issn 0361-8609, 2 p.Article

Free Sialic Acid Storage Disease without SialuriaMOCHEL, Fanny; BINGZHI YANG; ABU-ASAB, Mones et al.Annals of neurology. 2009, Vol 65, Num 6, pp 753-757, issn 0364-5134, 5 p.Article

Uromodulin storage diseaseNASR, S. H; LUCIA, J. P; GALGANO, S. J et al.Kidney international. 2008, Vol 73, Num 8, pp 971-976, issn 0085-2538, 6 p.Article

Storage of phosphorylated desmin in a familial myopathyRAPPAPORT, L; CONTARD, F; SAMUEL, J. L et al.FEBS letters. 1988, Vol 231, Num 2, pp 421-425, issn 0014-5793Article

N-acetylneuraminic acid storage diseaseBAUMKÖTTER, J; CANTZ, M; MENDLA, K et al.Human genetics. 1985, Vol 71, Num 2, pp 155-159, issn 0340-6717Article

Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseasesMOCHEL, F; ENGELKE, U. F. H; SEGUIN, F et al.Neurology. 2010, Vol 74, Num 4, pp 302-305, issn 0028-3878, 4 p.Article

Improved cytochemical method for detecting Jordans' bodies in neutral lipid storage diseasesTAVIAN, Daniela; COLOMBO, Roberto; COLOMBO, Roberto et al.COLOMBO, Roberto; COLOMBO, Roberto et al.Journal of clinical pathology. 2007, Vol 60, Num 8, pp 956-958, issn 0021-9746, 3 p.Article

Thésaurismoses cornéennes épithéliales et lentilles de contact = Epithelial corneal thesaurismosis and contact lensesMALBREL, P; MONBRUN, C; MOUTON, D et al.Bulletin des sociétés d'ophtalmologie de France. 1986, Vol 86, Num 4, pp 587-589, issn 0081-1270Article

Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in uteroFROISSART, R; CHEILLAN, D; BOUVIER, R et al.Journal of medical genetics. 2005, Vol 42, Num 11, pp 829-836, issn 0022-2593, 8 p.Article

Lectin histochemistry of an ovine lysosomal storage disease with deficiencies of β-galactosidase and α-neuraminidaseMURNANE, R. D; AHERN-RINDELL, A. J; PRIEUR, D. J et al.The American journal of pathology. 1989, Vol 135, Num 4, pp 623-630, issn 0002-9440, 8 p.Article

Lysosomal storage diseases: cellular pathology, clinical and genetic heterogeneity, therapy = Les maladies lysosomiales: pathologie cellulaire, hétérogénéité clinique et génétique, thérapeutiqueREUSER, A. J. J; KROOS, M. A; VISSER, W. J et al.Annales de biologie clinique (Paris). 1994, Vol 52, Num 10, pp 721-728, issn 0003-3898Article

Early detection of lysosomal storage diseasesKOLODNY, E. H.Annals of the New York Academy of Sciences. 1986, Vol 477, pp 312-320, issn 0077-8923Article

Trafficking of lysosomal enzymes in normal and diseases statesKORNFELD, S.The Journal of clinical investigation. 1986, Vol 77, Num 1, pp 1-6, issn 0021-9738Article

A Novel Mutation in PNPLA2 Leading to Neutral Lipid Storage Disease With MyopathyASH, Daniel B; PAPADIMITRIOU, Dimitra; HAYS, Arthur P et al.Archives of neurology (Chicago). 2012, Vol 69, Num 9, pp 1190-1192, issn 0003-9942, 3 p.Article

Gallbladder Dysfunction in Cholesterol Ester Storage DiseaseHALLER, Wolfram; SHARIF, Khalid; MILLAR, Alastair J. W et al.Journal of pediatric gastroenterology and nutrition. 2010, Vol 50, Num 5, pp 555-558, issn 0277-2116, 4 p.Article

Free sialic acid storage disease: a new Italian caseFOIS, A; BALESTRI, P; FARNETANI, M. A et al.European journal of pediatrics. 1987, Vol 146, Num 2, pp 195-198, issn 0340-6199Article

Blocked Muscle Fat Oxidation During Exercise in Neutral Lipid Storage DiseaseLAFORET, Pascal; ØRNGREEN, Mette; PREISLER, Nicolai et al.Archives of neurology (Chicago). 2012, Vol 69, Num 4, pp 530-533, issn 0003-9942, 4 p.Article

Urinary excretion of sulphated N-acetylhexosamines in patients with various mucopolysaccharidosesHOPWOOD, J. J; ELLIOTT, H.Biochemical journal (London. 1906). 1985, Vol 229, Num 3, pp 579-586, issn 0006-2936Article

Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosisCANNELLI, N; NARDOCCI, N; BERTINI, E et al.Neuropediatrics. 2007, Vol 38, Num 1, pp 46-49, issn 0174-304X, 4 p.Article

Fanconi-Bickel syndrome : the original patient and his natural history, historical steps leading to the primary defect, and a review of the literatureSANTER, R; SCHNEPPENHEIM, R; SUTER, D et al.European journal of pediatrics. 1998, Vol 157, Num 10, pp 783-797, issn 0340-6199Article

Case of the month : A 3.5-year-old female with developmental delays, hepatomegaly, and coarse faciesYANO, S; FALK, R. E; NATOWICZ, M. R et al.European journal of pediatrics. 1997, Vol 156, Num 8, pp 661-663, issn 0340-6199Article

Neutral lipid storage diseases. Case report and lipid studiesJUDGE, M. R; ATHERTON, D. J; SALVAYRE, R et al.British journal of dermatology (1951). 1994, Vol 130, Num 4, pp 507-510, issn 0007-0963Article