Results 41 to 50 of about 528,073 (147)

AAV-Mediated CRISPR/Cas9 Gene Editing in Murine Phenylketonuria

Molecular Therapy: Methods & Clinical Development, 2020
Phenylketonuria (PKU) due to recessively inherited phenylalanine hydroxylase (PAH) deficiency results in hyperphenylalaninemia, which is toxic to the central nervous system. Restriction of dietary phenylalanine intake remains the standard of PKU care and
Daelyn Y. Richards, Shelley R. Winn, Sandra Dudley, Sean Nygaard, Taylor L. Mighell, Markus Grompe, Cary O. Harding   +6 more
doaj   +1 more source

Specific characteristics of dynamic monitoring of patients diagnosed with classical phenylketonuria during pregnancy

Лечащий Врач
Background. The main therapy for phenylketonuria is a specialised diet with restriction of natural protein, respectively phenylalanine with the prescription of specialised therapeutic foods based on amino acids without phenylalanine.
E. A. Shestopalova
doaj   +1 more source

International Guideline on the Diagnosis, Treatment, and Monitoring of Long‐Chain Fatty Acid Oxidation Disorders (LC‐FAOD)

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
ABSTRACT Long‐chain fatty acid oxidation disorders (LC‐FAOD) are rare inherited defects of mitochondrial β‐oxidation that impair energy generation during fasting or metabolic stress. Clinical manifestations range from neonatal hypoketotic hypoglycemia and cardiomyopathy to hepatopathy, recurrent rhabdomyolysis, and chronic myopathy.
Sarah C. Grünert, Kaustuv Bhattacharya, Daniela Karall, Mirjam Langeveld, Fran Rohr, Gepke Visser, Jerry Vockley, Aileen Kenneson, Rani H. Singh, Ute Spiekerkoetter, International LC‐FAOD Guideline Workgroup, Georgianne L. Arnold, Kiera Batten, Terry G. J. Derks, Patrick Forny, Melanie B. Gillingham, Emma Glamuzina, Anita Inwood, Monika Jörg‐Streller, Erle Kristensen, Svetlana Lajic, Alexander Laemmle, Risto Lapatto, Elena Martín‐Hernández, Diego Martinelli, Mel McSweeney, Sonia Moreira, Margot F. Mulder, Anna Nordenström, Bryony Ryder, Marit Schwantje, Ida Vanessa D. Schwartz, Arthavan Selvanathan, Serap Sivri, Maren Thiel, Pilar Quijada‐Fraile, Johan L. K. Van Hove, Yilmaz Yildiz   +37 more
wiley   +1 more source

Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies

, 2012
Background: Untreated maternal phenylketonuria or hyperphenylalaninemia may result in nonphenylketonuric offspring with neonatal sequelae, especially intellectual disability, microcephaly, and congenital heart disease (CHD).
Wim CJ Hop, Duvekot, J.J., Hop, Wim C.J., Babette W Prick, Prick, Babette, Johannes J Duvekot   +5 more
core   +1 more source

Amino Acid Metabolism in Health and Disease

MedComm, Volume 7, Issue 9, September 2026.
This graphical abstract delineates the multifaceted role of amino acid metabolism in health and disease. It illustrates how amino acids sustain physiological homeostasis across the liver, kidney, brain, heart, intestine, muscle, skeleton, and immune system.
Zhiwei Su, Jinyu Liu, Xiaoliang Deng, Yanqun Luo, Haiping Xue, Lei Wang, Lianjun Xing, Tao Wu   +7 more
wiley   +1 more source

Challenges in the management of Phenylketonuria in Malta [PDF]

, 2016
Phenylketonuria (PKU) is a rare metabolic disorder comprising a number of different enzyme deficiencies. In Malta, dihydropteridine reductase (DHPR) deficiency appears to be more common than phenylalanine hydroxylase deficiency (classical PKU), and is ...
Attard, Stephen, Attard Montalto, Simon
core  

Human Skin Odor Throughout Life: A Literature Review

Journal of Cosmetic Dermatology, Volume 25, Issue 9, September 2026.
ABSTRACT Background Human skin continuously releases volatile organic compounds (VOCs) that constitute the skin volatilome, a dynamic chemical signature reflecting genetic, hormonal, microbial, and environmental influences. Objective To provide a comprehensive, critically appraised synthesis of current knowledge on the human skin volatilome across the ...
Ghada Farouk Mohammed, Ahmed Kaid Alantary, Mohammed Saleh Al‐Dhubaibi, Saleh Salem Bahaj, Nada Sameh Aziz, Ahmed Mohammed Al‐Dhubaibi   +5 more
wiley   +1 more source

Evaluation of primary health care nurses’ knowledge and neonatal screening performance for phenylketonuria in Alexandria

BMC Nursing
Introduction Nurses play a crucial role in the primary prevention of phenylketonuria (PKU) within national screening programs for newborns. This is achieved through consult with the child’s provider promptly to arrange a PKU test, accurate collection of ...
Esraa Mohammed Abd El-Samie Ismail, Wafaa Mohamed Elarousy, Shaymaa Saeed Mohamed Badawe, Rasha Mohamed Abohadida   +3 more
doaj   +1 more source

Re‐evaluation of salt of aspartame‐acesulfame (E 962) as food additive

EFSA Journal, Volume 24, Issue 9, September 2026.
Abstract The present opinion deals with the re‐evaluation of salt of aspartame‐acesulfame (E 962) as a food additive. The Panel considered that upon ingestion, E 962 dissociates into aspartame and acesulfame ions which correspond to those of the authorised sweeteners aspartame (E 951) and acesulfame K (E 950). The Panel therefore assessed the safety of
EFSA Panel on Food Additives and Flavourings (FAF), Laurence Castle, Monica Andreassen, Gabriele Aquilina, Maria Lourdes Bastos, Polly Boon, Biagio Fallico, Rex FitzGerald, Maria Jose Frutos Fernandez, Bettina Grasl‐Kraupp, Ursula Gundert‐Remy, Rainer Gürtler, Eric Houdeau, Marcin Kurek, Henriqueta Louro, Patricia Morales, Sabina Passamonti, Ellen Bruzell, Cristina Fortes, Kevin James Chipman, Riccardo Crebelli, Peter Fürst, Jean‐Charles Leblanc, Evangelia Ntzani, Andrea Terron, Matthew Wright, Stefania Barmaz, Costanza Bonnici, Consuelo Civitella, Elena Mazzoli, Josef Daniel Rasinger, Ana Rincon, Camilla Smeraldi, Alexandra Tard, Federica Lodi   +34 more
wiley   +1 more source

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, Volume 9, Issue 8, Page 1648-1660, August 2026.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source