N-Acetylneuraminic acid and sialoglycoconjugate metabolism in fibroblasts from a patient with generalized N-acetylneuraminic acid storage diseaseHANCOCK, L. W; HORWITZ, A. L; DAWSON, G et al.Biochimica et biophysica acta. 1983, Vol 760, Num 1, pp 42-52, issn 0006-3002Article

A comparison of autofluorescence emission spectra of bleached neuromelanin in non-diseased substantia nigra with spectra of other intraneuronal pigments in non-diseased and diseased tissueDOWSON, J. H.Acta neuropathologica. 1983, Vol 61, Num 3-4, pp 196-200, issn 0001-6322Article

The fish odor syndrome: TrimethylaminuriaSHELLEY, E. D; SHELLEY, W. B.JAMA, the journal of the American Medical Association. 1984, Vol 251, Num 2, pp 253-255, issn 0098-7484Article

Clinical quizDE FRANCO, Francesca; LAZZERINI, Marzia; COLONNA, Franco et al.Journal of pediatric gastroenterology and nutrition. 2004, Vol 39, Num 4, issn 0277-2116, 435,443 [2 p.]Article

Assay of the G _M2-ganglioside cleaving hexosaminidase activity of skin fibroblasts for G _M2-gangliosidosesHARZER, K.Clinica chimica acta. 1983, Vol 135, Num 1, pp 89-93, issn 0009-8981Article

Heterogeneity of lipoprotein electrophoretic patterns in patients with type IIa hyperlipoproteinemiaHOEG, J. M; PAPADOPOULOS, N. M; GREGG, R. E et al.Clinical chemistry (Baltimore, Md.). 1983, Vol 29, Num 8, pp 1459-1462, issn 0009-9147Article

Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblastsDUBIEL, B; DABROWSKI, C; WETTS, R et al.The Journal of clinical investigation. 1983, Vol 72, Num 5, pp 1543-1552, issn 0021-9738Article

Failure of hypercholesterolemic serum to stimulate collagen synthesis in aortic smooth muscle cells from two species of nonhuman primates having different rates of collagen synthesisCLAIR, R. W. S; JONES, D. C; HESTER, S. H et al.Proceedings of the Society for Experimental Biology and Medicine. 1983, Vol 174, Num 1, pp 137-142, issn 0037-9727Article

Vitamin-responsive inborn errors of metabolismBARTLETT, K.Advances in clinical chemistry. 1983, Vol 23, pp 141-198, issn 0065-2423Article

Regional variation of brain gangliosides in feline GM1 gangliosidosisBYRNE, M. C; LEDEEN, R. W.Experimental neurology (Print). 1983, Vol 81, Num 1, pp 210-225, issn 0014-4886Article

A toothpick in the antrumCOBAN, Sahin; BASAR, Ömer; KÖKLÜ, Seyfettin et al.Digestive diseases and sciences. 2005, Vol 50, Num 10, pp 1880-1881, issn 0163-2116, 2 p.Article

Guidelines on paediatric parenteral nutrition of the European Society of Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) and the European Society for Clinical Nutrition and Metabolism (ESPEN), supported by the European Society of Paediatric Research (ESPR)KOLETZKO, Berthold; GOULET, Olivier; HUNT, Joanne et al.Journal of pediatric gastroenterology and nutrition. 2005, Vol 41, issn 0277-2116, 90 p., SUP2Serial Issue

2. EnergyJournal of pediatric gastroenterology and nutrition. 2005, Vol 41, pp S5-S11, issn 0277-2116, SUP2Article

Metabolic Syndrome: Part IGRUNDY, Scott M.Endocrinology and metabolism clinics of North America. 2004, Vol 33, Num 2, issn 0889-8529, 210 p.Serial Issue

Consultative endocrinologyBURCH, Henri B.Endocrinology and metabolism clinics of North America. 2003, Vol 32, Num 2, issn 0889-8529, 561 p.Serial Issue

Effets de l'iodo-héparinate de sodium administré par voie perlinguale sur les lipides, lipoprotéines, apoprotéines et sur l'activité lipoprotéine lipase plasmatique. A partir d'un essai ouvert concernant vingt patients affectés d'hyperlipoprotéinémie mineure de type IIa et IIb = Effect of perlingual sodium iodoheparinate on lipids, lipoproteins, apoproteins and on plasmatic lipase lipoprotein activity. An open clinical trial with patients with type IIa and type IIb minor hyperlipoproteinemiaROUFFY, J; CHANU, B; GOY-LOEPER, J et al.La Semaine des hôpitaux de Paris. 1985, Vol 61, Num 25, pp 1801-1806, issn 0037-1777Article

Cholesterol «tophus»FAM, A. G; SUGAI, M; GERTNER, E et al.Arthritis and rheumatism. 1983, Vol 26, Num 12, pp 1525-1528, issn 0004-3591Article

Cholesteryl ester accumulation in mouse peritoneal macrophages induced by β-migrating very low density lipoproteins from patients with atypical dysbetalipoproteinemiaBERSOT, T. P; INNERARITY, T. L; MAHLEY, R. W et al.The Journal of clinical investigation. 1983, Vol 72, Num 3, pp 1024-1033, issn 0021-9738Article

Lysosomal acid hydrolases in normal individuals controls and patients with inborn errors of metabolismRAINE, D. N; CROSSLEY, J. E; KENNEDY, J. F et al.British polymer journal. 1983, Vol 15, Num 3, pp 139-148, issn 0007-1641Article

Senile amyloidosis: principles of localization in a heterogeneous form of amyloidosisSTÖRKEL, S; BOHL, J; SCHNEIDER, H.-M et al.Virchows Archiv. B, Cell pathology. 1983, Vol 44, Num 2, pp 145-161, issn 0340-6075Article

Rome in real lifeRASQUIN, Andrée; ARLENE, Caplan.Journal of pediatric gastroenterology and nutrition. 2005, Vol 41, pp s34-s35, issn 0277-2116, SUP1Conference Paper

Treatment and outcomeKIRK, Jean M.Journal of inherited metabolic disease. 1995, Vol 18, Num 4, issn 0141-8955, 162 p.Conference Proceedings

Amyloid formation from immunoglobulin chainsEULITZ, M.Biological chemistry Hoppe-Seyler. 1992, Vol 373, Num 7, pp 629-633, issn 0177-3593Conference Paper

The HyperlipoproteinemiasPATSCH, W; PATSCH, J. R; GOTTO, A. M et al.The Medical clinics of North America. 1989, Vol 73, Num 4, pp 859-893, issn 0025-7125, 35 p.Article

The routine investigation of urinary organic acids in selected paediatric patients: results over a 2 1/2-year periodBENNETT, M. J; GREEN, A; POLLITT, R. J et al.Annals of clinical biochemistry. 1984, Vol 21, Num 1, pp 45-50, issn 0004-5632Article