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Results 1 to 25 of 4293

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Long-chain polyunsaturated fatty acid status in phenylketonuric patients treated with tetrahydrobiopterinVILASECA, Maria A; LAMBRUSCHINI, Nilo; GOMEZ-LOPEZ, Lilianne et al.Clinical biochemistry. 2010, Vol 43, Num 4-5, pp 411-415, issn 0009-9120, 5 p.Article

PERINEURITIS IN ACUTE LYME NEUROBORRELIOSISELAMIN, Marwa; ALDERAZI, Yazan; MULLINS, Gerard et al.Muscle & nerve. 2009, Vol 39, Num 6, pp 851-854, issn 0148-639X, 4 p.Article

Homocystéinurie à révélation tardive: aspect clinique, biologique et évolutif = Late revelation of homocysteinuria: Clinical, biological and progressive aspectsAZZABI, S; BARHOUMI, A; OMAR, S et al.Pathologie et biologie. 2009, Vol 57, Num 5, pp 451-455, issn 0369-8114, 5 p.Article

Are neuropsychological impairments in children with early-treated phenylketonuria (PKU) related to white matter abnormalities or elevated phenylalanine levels?ANDERSON, Peter J; WOOD, Stephen J; FRANCIS, Dorothy E et al.Developmental neuropsychology. 2007, Vol 32, Num 2, pp 645-668, issn 8756-5641, 24 p.Article

Mitochondrial damage induced by fetal hyperphenylalaninemia in the rat brain and liver : Its prevention by melatonin, vitamin e, and vitamin CMARTINEZ-CRUZ, Francisco; OSUNA, Carmen; GUERRERO, Juan M et al.Neuroscience letters. 2006, Vol 392, Num 1-2, pp 1-4, issn 0304-3940, 4 p.Article

Phénylcétonurie = PhenylketonuriaFEILLET, Francois.La Presse médicale (1983). 2006, Vol 35, Num 3, pp 502-508, issn 0755-4982, 7 p., CAH2Article

Prise en charge thérapeutique d'une hyperphénylalaninémie par défaut de synthèse périphérique en tétrahydrobioptérine = Hyperphenylalaninemia with a peripherical deficiency of the synthesis of tetrahydrobiopterin : therapeutic approachGILLES, C; ROY, S; OGIER DE BAULNY, H et al.Journal de pharmacie clinique (Paris). 2006, Vol 25, Num 3, pp 185-189, issn 0291-1981, 5 p.Article

Spectrum of hypermethioninemia in neonatal screeningCHIEN, Yin-Hsiu; CHIANG, Shu-Chuan; AICHU HUANG et al.Early human development. 2005, Vol 81, Num 6, pp 529-533, issn 0378-3782, 5 p.Article

Propionic acidemia and zinc deficiency presenting as necrolytic migratory erythemaAL-RIKABI, Ammar C; AL-HOMSI, Hala I.Saudi medical journal. 2004, Vol 25, Num 5, pp 660-662, issn 0379-5284, 3 p.Article

Choline- and betaine-defined diets for use in clinical research and for the management of trimethylaminuriaBUSBY, Marjorie G; FISCHER, Leslie; DA COSTA, Kerry-Ann et al.Journal of the American Dietetic Association. 2004, Vol 104, Num 12, pp 1836-1845, issn 0002-8223, 10 p.Article

Influence of knowledge of the disease on metabolic control in phenylketonuriaBEKHOF, Jolita; VAN SPRONSEN, Francjan J; CRONE, Matty R et al.European journal of pediatrics. 2003, Vol 162, Num 6, pp 440-442, issn 0340-6199, 3 p.Article

Different presentations of late-detected phenylketonuria in two brothers with the same R408W/RIIIX genotype in the PAH geneGIZEWSKA, M; CABALSKA, B; CYRYTOWSKI, L et al.JIDR. Journal of intellectual disability research (Print). 2003, Vol 47, pp 146-152, issn 0964-2633, 7 p., 2Article

Effect of leucine administration on creatine kinase activity in rat brainPILLA, Carmen; DE OLIVEIRA CARDOZO, Rui Felipe; SEVERO DUTRA-FILHO, Carlos et al.Metabolic brain disease. 2003, Vol 18, Num 1, pp 17-25, issn 0885-7490, 9 p.Article

Evaluation of nutritional status and pathophysiology of growth retardation in patients with phenylketonuriaDOBBELAERE, D; MICHAUD, L; DEBRABANDER, A et al.Journal of inherited metabolic disease. 2003, Vol 26, Num 1, pp 1-11, issn 0141-8955, 11 p.Article

Genetic and nutritional factors contributing to hyperhomocysteinemia in young adultsKLUIJTMANS, Leo A. J; YOUNG, Ian S; BOREHAM, Colin A et al.Blood. 2003, Vol 101, Num 7, pp 2483-2488, issn 0006-4971, 6 p.Article

Hyperhomocysteinemia and vitamin B-12 deficiency are more striking in Syrians than in Germans: causes and implicationsHERRMANN, Wolfgang; OBEID, Rima; JOUMA, Muhidien et al.Atherosclerosis. 2003, Vol 166, Num 1, pp 143-150, issn 0021-9150, 8 p.Article

Mevalonate kinase deficiency: Enlarging the clinical and biochemical spectrumPRIETSCH, Viola; MAYATEPEK, Ertan; KRASTEL, Hermann et al.Pediatrics (Evanston). 2003, Vol 111, Num 2, pp 258-261, issn 0031-4005, 4 p.Article

Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetaseRUITENBEEK, Wim; KOBAYASHI, Keiko; WEVERS, Ron A et al.Annals of clinical biochemistry. 2003, Vol 40, pp 102-107, issn 0004-5632, 6 p., 1Article

Ophthalmic follow-up of patients with tyrosinaemia type I on NTBCGISSEN, P; PREECE, M. A; WILLSHAW, H. A et al.Journal of inherited metabolic disease. 2003, Vol 26, Num 1, pp 13-16, issn 0141-8955, 4 p.Article

Peroxisome proliferator ameliorates endothelial dysfunction in a murine model of hyperhomocysteinemiaSOOD, Harpreet S; HUNT, Matthew J; TYAGI, Suresh C et al.American journal of physiology. Lung cellular and molecular physiology. 2003, Vol 28, Num 2, pp L333-L341, issn 1040-0605Article

Proline reduces acetylcholinesterase activity in cerebral cortex of ratsDELWING, Daniela; CHIARANI, Fabria; DELWING, Débora et al.Metabolic brain disease. 2003, Vol 18, Num 1, pp 79-86, issn 0885-7490, 8 p.Article

Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girlFERNANDEZ-ALVAREZ, Emilio; GARCIA-CAZORLA, Angeles; SANS, Anna et al.Movement disorders. 2003, Vol 18, Num 9, pp 1076-1079, issn 0885-3185, 4 p.Article

Incidence of phenylketonuria in iran estimated from consanguineous marriagesKOOCHMESHGI, J; BAGHERI, A; HOSSEINI-MAZINANI, S. M et al.Journal of inherited metabolic disease. 2002, Vol 25, Num 1, pp 80-81, issn 0141-8955Article

Acetylcholinesterase activity and biogenic amines in phenylketonuriaSCHTTYIS, Kleopatra H; KARIKAS, George A; TJAMOURANIS, Joanna et al.Clinical chemistry (Baltimore, Md.). 2002, Vol 48, Num 10, pp 1794-1796, issn 0009-9147, 3 p.Article

Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiencyNAITO, Etsuo; ITO, Michinori; YOKOTA, Ichiro et al.Journal of the neurological sciences. 2002, Vol 201, Num 1-2, pp 33-37, issn 0022-510XArticle

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