Results 141 to 150 of about 32,659 (306)

Fenilcetonúria e suas variantes: revisão bibliográfica [PDF]

, 2008
A fenilcetonúria representa o erro do metabolismo dos aminoácidos mais comum na população caucasiana, atingindo 1/10.000 nascimentos. Esta doença, de transmissão autossómica recessiva, resulta da deficiência em fenilalanina hidroxilase ou de erros no ...
Cardoso, Inês Lopes, Machado, Joana
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The Genetic Landscape and Epidemiology of Phenylketonuria.

American Journal of Human Genetics, 2020
Alicia Hillert, Y. Anikster, A. Bélanger-Quintana, A. Burlina, B. Burton, C. Carducci, A. Chiesa, J. Christodoulou, M. Đorđević, L. Desviat, A. Eliyahu, Roeland A. F. Evers, L. Fajkusová, F. Feillet, Pedro E Bonfim-Freitas, M. Giżewska, P. Gundorova, D. Karall, K. Kneller, S. Kutsev, V. Leuzzi, H. Levy, U. Lichter-Konecki, A. Muntau, F. Namour, M. Ołtarzewski, A. Paras, B. Pérez, E. Polák, A. Polyakov, F. Porta, M. Rohrbach, S. Scholl-Bürgi, N. Specola, M. Stojiljkovic, N. Shen, Luiz C Santana-da Silva, A. Skouma, F. V. van Spronsen, Vera Stoppioni, B. Thöny, F. Trefz, J. Vockley, Youngguo Yu, J. Zschocke, G. Hoffmann, S. Garbade, N. Blau   +47 more
semanticscholar   +1 more source

Newborn Screening in Slovenia / Presejanje Novorojencev V Sloveniji

Slovenian Journal of Public Health, 2015
Uvod. Presejanje novorojencev v Sloveniji se je začelo leta 1979 s presejanjem za fenilketonurijo (PKU). Leta 1981 je bil v program presejanja dodan še kongenitalni hipotireoidizem (CH).
Šmon Andraž, Grošelj Urh, Žerjav Tanšek Mojca, Biček Ajda, Oblak Adrijana, Zupančič Mirjana, Kržišnik Ciril, Repič Lampret Barbka, Murko Simona, Hojker Sergej, Battelino Tadej   +10 more
doaj   +1 more source

THE ASSOCIATION OF PHENYLKETONURIA WITH LEUCODYSTROPHY [PDF]

, 1962
L. Crome
openalex   +1 more source

Amino acids, glucose metabolism and clinical relevance for phenylketonuria management [PDF]

, 2015
It is general knowledge that glycaemia is affected by digested nutrients.Amino acids intake appears to be an important regulator in this regard. Many questions need to be answered, such as the real mediators of this responseand the mechanisms underlying ...
Borges, Nuno, Pena, MJ, Rocha, JC
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Dietary and Biochemical Control of Phenylketonuria [PDF]

, 1961
F. S. W. Brimblecombe, J. D. Blainey, M. E. R. Stoneman, B. S. B. Wood   +3 more
openalex   +1 more source

PAH and QDPR deficiency associated mutations in the Novosibirsk region of the Russian Federation: Correlation of mutation type with disease manifestation and severity [PDF]

Journal of Medical Biochemistry, 2014
Background: Efficient treatment of inherited hyperphenylalaninemia requires exact identification of mutations defining the trait. Such knowledge is important both for effective individual therapy and understanding of the genetic history and evolution of ...
Baturina Olga A., Tupikin Alexey E., Lukjanova Tatyana V., Sosnitskaya Svetlana V., Morozov Igor V.   +4 more
doaj  

Megaloblastic Anaemia Complicating Dietary Treatment of Phenylketonuria in Infancy [PDF]

, 1962
N. J. W. Royston, T. E. Parry
openalex   +1 more source

Phenylketonuria. [PDF]

BMJ, 1970
B E, Clayton, O H, Wolff
openaire   +2 more sources

Screening of internationally adopted children [PDF]

, 1994
Currently, we have no local generally agreed guidelines for the examination of children adopted overseas. Out of 163 adopted children, who were brought into Malta between January 1991 and June 1992, 140 (86%) were seen at the children’s Outpatient ...
Dalmas, Miriam, Lenicker, Herbert Manfred, Portelli, Alfred V., Vassallo Agius, Paul   +3 more
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