Results 71 to 80 of about 7,438 (233)

Treatment of Phenylketonuria with a Diet Low in Phenylalanine [PDF]

, 1955
L. I. Woolf, Ruth Griffiths, Alan Moncrieff   +2 more
openalex   +1 more source

Embracing the future: Neonatal screening for epileptic syndromes

Epilepsia, EarlyView.
Rima Nabbout, Mathieu Kuchenbuch
wiley   +1 more source

Genetic Insights Into Hyaline Fibromatosis Syndrome: A Case Report of an ANTXR2 Mutation Featuring a Rare Variant c.697+1G>A

Clinical Case Reports, Volume 13, Issue 4, April 2025.
ABSTRACT Hyaline fibromatosis syndrome (HFS) is a rare genetic disorder encompassing juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH), caused by mutations in the anthrax toxin receptor 2 gene (ANTXR2). This condition leads to the accumulation of hyaline plaques in the skin and organs, resulting in symptoms such as skin ...
Shabnam Hajiani Ghotbabadi, Reza Shiari, Shayan Yousufzai, Simin Sharifi   +3 more
wiley   +1 more source

The effect of glycomacropeptide-based foods upon blood phenylalanine control in adults and children with phenylketonuria [PDF]

, 2018
Conventional treatment for phenylketonuria restricts dietary phenylalanine to ‘control’ plasma phenylalanine concentrations. Its widespread adoption has largely eradicated the severe neurocognitive defects that previously characterised phenylketonuria ...
Thomson, Roderick
core  

An Improved Test for Phenylketonuria [PDF]

, 1959
Chauncey O. Rupe, Alfred H. Free
openalex   +1 more source

Transendocardial injection of expanded autologous CD34+ cells after myocardial infarction: Design of the EXCELLENT trial

ESC Heart Failure, Volume 12, Issue 2, Page 1455-1463, April 2025.
Abstract Aims The extent of irreversible cardiomyocyte necrosis after acute myocardial infarction (AMI) is a major determinant of residual left ventricular (LV) function and clinical outcome. Cell therapy based on CD34+ cells has emerged as an option to help repair the myocardium and to improve outcomes.
Jerome Roncalli, François Roubille, Nicolas Meyer, Giulio Pompilio, Lionel Leroux, Philippe Henon, Guillaume Trebuchet, Anthony Criquet, Matthieu de Kalbermatten, Eric Saloux, Alain Manrique, Pierre‐Yves Marie, Deepak L. Bhatt, Scott D. Solomon, Gilles Montalescot, David E. Newby, Faiez Zannad, on behalf of the EXCELLENT Trial Investigators   +17 more
wiley   +1 more source

Lanches salgados para adolescentes portadores de fenilcetonúria [PDF]

, 2015
Monografia (graduação)—Universidade de Brasília, Faculdade de Ciências da Saúde, Departamento de Nutrição, 2015.A dieta extremamente restrita da fenilcetonúria deve ser seguida ao longo de toda a vida.
Prado, Mariana
core  

A CHEMICAL INVESTIGATION OF THE DEFECTS OF MYELINATION IN PHENYLKETONURIA [PDF]

, 1962
L. Crome, V. Tymms, L. I. Woolf
openalex   +1 more source

Linking Cenozoic Magmatism in the North‐Central Tibetan Plateau With Plateau Growth

Geochemistry, Geophysics, Geosystems, Volume 26, Issue 4, April 2025.
Abstract Accurate reconstruction of paleo‐crustal and lithospheric thicknesses is crucial for understanding the deep geodynamic processes driving the uplift and growth of the Tibetan Plateau (TP) and their association with Cenozoic magmatism. We reconstruct the Cenozoic crustal thickness evolution of the north‐central TP using a machine learning model ...
Peng Guo, Ting Yang, Wei‐Qiang Ji
wiley   +1 more source

From powerholders to stakeholders: State‐building with elite compensation in early medieval China

American Journal of Political Science, Volume 69, Issue 2, Page 607-623, April 2025.
Abstract How do rulers soften resistance by local powerholders to state‐building efforts? This paper highlights a strategy of compensation, where elites receive government offices in exchange for relinquishing their localist interests, and become uprooted and integrated into the national political system as stakeholders. We explore this strategy in the
Joy Chen, Erik H. Wang, Xiaoming Zhang
wiley   +1 more source