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Evaluation of aminoaciduria in severely traumatized patientsWEI LIU; LOPEZ, Juliet M; VANDERJAGT, Dorothy J et al.Clinica chimica acta. 2002, Vol 316, Num 1-2, pp 123-128, issn 0009-8981Article

Peeling skin syndrome with aminoaciduriaINAMADAR, Arun C; PALIT, Aparna.Pediatric dermatology. 2005, Vol 22, Num 4, pp 314-316, issn 0736-8046, 3 p.Article

A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduriaMAGEN, Daniella; SPRECHER, Eli; ZELIKOVIC, Israel et al.Kidney international. 2005, Vol 67, Num 1, pp 34-41, issn 0085-2538, 8 p.Article

Plasma and urinary amino acids as indicators of proximal tubular function in primary hyperparathyroidismKRISTOFFERSSON, A; GRANKVIST, K.Acta chirurgica. The european journal of surgery. 1991, Vol 157, Num 9, pp 505-509Article

Lysinuric protein intolerance. Urinary amino acid excretion at 2 and 9 days of ageCANDITO, M; VIANEY-SABAN, C; FERRACI, J.-P et al.Journal of inherited metabolic disease. 1994, Vol 17, Num 2, pp 252-253, issn 0141-8955Article

Increased concentrations of various amino acids in schizophrenic patients: evidence for heterozygosity effects?SMERALDI, E; LUCCA, A; MACCIARDI, F et al.Human genetics. 1987, Vol 76, Num 2, pp 138-140, issn 0340-6717Article

ARGININOSUCCINIC ACIDURIA IN A FINNISH WOMAN PRESENTING WITH PSYCHOSIS AND MENTAL RETARDATIONVON WENDT L; SIMILA S; RUOKONEN A et al.1982; ANN. CLIN. RES.; ISSN 0003-4762; FIN; DA. 1982; VOL. 14; NO 3; PP. 145-147; BIBL. 8 REF.Article

INHERITED DISORDERS OF AMINO ACID TRANSPORT IN RELATION TO THE KIDNEYBUCHLER BA.1981; ANN. CLIN. LAB. SCI.; ISSN 0091-7370; USA; DA. 1981; VOL. 11; NO 3; PP. 274-278; BIBL. 15 REF.Article

Aminoacidurias : Clinical and molecular aspectsCAMARGO, S. M. R; BOCKENHAUER, D; KLETA, R et al.Kidney international. 2008, Vol 73, Num 8, pp 918-925, issn 0085-2538, 8 p.Article

MODIFICATION DES CONCENTRATIONS DES ACIDES AMINES PLASMATIQUES ET URINAIRES INDUITES PAR DES THERAPEUTIQUESPARVY P.1982; ANN. BIOL. CLIN. (PARIS); ISSN 0003-3898; FRA; DA. 1982; VOL. 40; NO 1; PP. 23-28; BIBL. 40 REF.Article

RENAL GLUCOSURIA AND AMINOACIDURIA.G NONOTZSCHE O.1977; ACTA MED. SCAND.; SUEDE; DA. 1977; VOL. 202; NO 1-2; PP. 65-67; BIBL. 17 REF.Article

BETA-AMINOACIDURIA IN PATIENTS WITH BURKITT'S LYMPHOMA.WAALKES TP; GEHRKE CW; LAKINGS DB et al.1976; J. NATION: CANCER INST.; U.S.A.; DA. 1976; VOL. 57; NO 2; PP. 435-438; BIBL. 27 REF.Article

An update on molecular genetics of Alkaptonuria (AKU) : ALKAPTONURIAZATKOVA, Andrea.Journal of inherited metabolic disease. 2011, Vol 34, Num 6, pp 1127-1136, issn 0141-8955, 10 p.Article

A case of congenital cystinuriaCEDERBAUM, Stephen D.The Journal of pediatrics. 2002, Vol 140, Num 2, issn 0022-3476, p. 182Article

Alkaptonuric ochronosis: Report of two affected brothersGUTZMER, R; HERBST, R. A; KIEHL, P et al.Journal of the American Academy of Dermatology. 1997, Vol 37, Num 2, pp 305-307, issn 0190-9622, 2Article

Identification of N-acetyl-S-(3-oxo-3-carboxy-n-propyl)cysteine in the urine of a patient with cystathioninuria using LC/APCI-MSZHANG, J; MASUOKA, N; UBUKA, T et al.Journal of inherited metabolic disease. 1995, Vol 18, Num 6, pp 675-681, issn 0141-8955Article

Phosphaturia, glycosuria and aminoaciduria associated with idiopathic acquired sideroblastic anemiaHANSON, B; SZTERN, B; VAMOS, E et al.Clinical nephrology. 1995, Vol 44, Num 6, pp 382-388, issn 0301-0430Article

Aminoglycoside-induced Fanconi's syndromeMELNICK, J. Z; BAUM, M; THOMPSON, J. R et al.American journal of kidney diseases. 1994, Vol 23, Num 1, pp 118-122, issn 0272-6386Article

A Chinese case of hereditary xanthinuriaCHU, T.-S; LIU, Y.-L; YEN, T.-S et al.Journal of inherited metabolic disease. 1993, Vol 16, Num 5, issn 0141-8955, p. 899Article

Familial progressive renal tubulopathyFURUSE, A; FUTAGOISHI, Y; KARASHIMA, S et al.Clinical nephrology. 1992, Vol 37, Num 4, pp 192-197, issn 0301-0430Article

Interstitial deletion of the long arm of chromosome 8 without Langer-Giedion syndromeKAZUKAWA, S; ENDO, M; FUJII, T et al.Japanese journal of psychiatry and neurology. 1986, Vol 40, Num 2, pp 221-226, issn 0912-2036Article

Dermoscopic and Reflectance Confocal Microscopic Features of Exogenous OchronosisGIL, Inmaculada; SEGURA, Sonia; MARTINEZ-ESCALA, Estela et al.Archives of dermatology (1960). 2010, Vol 146, Num 9, pp 1021-1025, issn 0003-987X, 5 p.Article

Ultrastructural examination of tissue in a patient with alkaptonuric arthropathy reveals a distinct pattern of binding of ochronotic pigmentTAYLOR, Adam M; WLODARSKI, Brenda; PRIOR, Ian A et al.Rheumatology (Oxford. Print). 2010, Vol 49, Num 7, pp 1412-1414, issn 1462-0324, 3 p.Article

Alkaptonuria, ochronosis, and ochronotic arthropathyMANNONI, Alessandro; SELVI, Enrico; LORENZINI, Sauro et al.Seminars in arthritis and rheumatism. 2004, Vol 33, Num 4, pp 239-248, issn 0049-0172, 10 p.Article

Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from Central Asia and was spread throughout Europe and Anatolia by human migrationsUYGUNER, O; GOICOECHEA DE JORGE, E; CEFLE, A et al.Journal of inherited metabolic disease. 2003, Vol 26, Num 1, pp 17-23, issn 0141-8955, 7 p.Article

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