Results 111 to 120 of about 30,878 (268)
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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International Journal of Developmental Neuroscience, Volume 85, Issue 5, August 2025.This study is the first to report clinical and paraclinical profiles of autism spectrum disorder (ASD) in Algeria, as well as the prenatal, perinatal and postnatal factors. Findings were similar to other countries. The study highlights the need for increased awareness and training to improve early recognition of ASD in Algeria. ABSTRACT Autism spectrum
Ourida Loumi, Christian R. Andres
wiley +1 more source
Long-term correction of murine phenylketonuria by viral gene transfer: liver versus muscle [PDF]
, 2018 Current therapy for phenylketonuria (PKU) consists of life-long dietary restriction of phenylalanine (Phe), which presents problems of adherence for patients.
Thöny, Beat
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Journal of Genetic Counseling, Volume 34, Issue 4, August 2025.Abstract Reproductive genetic carrier screening (RGCS) allows screening for hundreds of autosomal recessive and X‐linked conditions. Multiple clinical professional bodies recommend that RGCS be offered to all prospective parents. There is some research into attitudes to targeted carrier screening for conditions common in specific populations.
Chaya M. Goldman +5 more
wiley +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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Earth's Future, Volume 13, Issue 8, August 2025.Abstract Soil‐atmosphere compound drought (SACD) significantly impacts vegetation, with effects expected to intensify under global warming. However, the dynamic coupling relationship between vegetation and SACD considering the optimal time lag remains unclear. To address this, we first employed copulas to develop a SACD index at temporal scales ranging
Rong Wu +4 more
wiley +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. +4 more
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Nutrition and Dietary Supplements, 2021 Laurie Bernstein,1,2 Joyanna Hansen,3 Christian Kogelmann,4 Margret Ellerbrok,4 Maria Gizewska,5 Sommer Gaughan,6 Julio Cesar Rocha,7– 9 Amaya Belanger,10 Fran Rohr2 1Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of ...
Bernstein L +8 more
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