Zobrazeno 1 - 10
of 283
pro vyhledávání: '"Amino Acids/urine"'
Autor:
Monia Allal El Asmi, Riadh Jemaa, Jean Louis Dhondt, Moncef Feki, Haifa Sanhaji, Marie Françoise Ben Dridi, Sameh Khemir, Naziha Kaabachi, Neji Tebib, Abderraouf Mebazaa
Publikováno v:
Clinical Neurology and Neurosurgery. 113:727-730
Background and objective Accumulation of phenylalanine following a deficiency of phenylalanine hydroxylase activity generates a brain damage with mental retardation: phenylketonuria (PKU). In the developing countries, where PKU systematic neonatal sc
Publikováno v:
Acta Pharmacologica et Toxicologica. 19:36-42
Autor:
Birgitta Haeger-Aronsen
Publikováno v:
Acta Pharmacologica et Toxicologica. 18:165-169
Autor:
Uros Hladnik, Sheila Ulivi, Manuel Palacín, Giovambattista Capasso, Gilberto Andrighetto, Virginia Nunes, Paolo Gasparini, Amerigo Beneduci, G. Pontoni, Carmela Lanzara, Pio D'Adamo
Publikováno v:
Amino Acids. 38:65-73
The study of two different Italian isolated populations was combined with a metabonomic approach to better understand tubular handling of amino acids. Levels of amino acids and metabolites have been analyzed by Nucleic Magnetic Resonance and expresse
Autor:
Wright Sw
Publikováno v:
Journal of Intellectual Disability Research. 4:32-41
Autor:
Kurt Kaijser
Publikováno v:
Clinical Genetics. 2:255-260
Autor:
Matthias R. Baumgartner, Uschi Lindert, Marius E. Kraenzlin, Cecilia Giunta, Ana Belinda Campos-Xavier, Marianne Rohrbach, Luisa Bonafé
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases
Orphanet Journal of Rare Diseases, vol. 10, no. 1, pp. 104
Orphanet journal of rare diseases
Orphanet Journal of Rare Diseases, vol. 10, no. 1, pp. 104
Osteogenesis imperfecta (OI) is a group of genetic heterogeneous connective tissue disorders characterized by increased bone fragility and susceptibility to fractures. Laboratory diagnosis relies on time-consuming and cost-intensive biochemical and m
Autor:
René Rizzoli, François Herrmann, Draper Michael William, Imre Pavo, Brigitte Florence Uebelhart
Publikováno v:
Journal of Bone and Mineral Research, Vol. 19, No 9 (2004) pp. 1518-1524
In healthy middle-aged men, raloxifene treatment was associated with increased serum estradiol and decreased biochemical markers of bone turnover in subjects with estradiol levels below a threshold of 101.8 pM. Introduction: We investigated the effec