Results 21 to 30 of about 1,727,355 (121)

Exploring Communication Patterns in the Discussion of Maternal PKU Syndrome Between Parents and Daughters [PDF]

, 2015
Maternal PKU syndrome is the collection of features and birth defects that arise from uncontrolled phenylalanine levels in a pregnant woman with phenylalanine hydroxylase (PAH) deficiency, previously known as phenylketonuria (PKU).
Andrews, Hannah Beth
core   +1 more source

Selected Abstracts of the 11th International Workshop on Neonatology; Cagliari (Italy); October 26-31, 2015

Journal of Pediatric and Neonatal Individualized Medicine, 2015
Selected Abstracts of the 11th International Workshop on Neonatology • FROM THE WOMB TO THE ADULT • Cagliari (Italy) • October 26th-31st 2015 The Workshop has been organized with the patronage of the Italian Society of Neonatology (SIN), the Italian ...
--- Various Authors
doaj   +1 more source

On the origin of trisomy 21 Down syndrome [PDF]

, 2008
Background: Down syndrome, characterized by an extra chromosome 21 is the most common genetic cause for congenital malformations and learning disability.
Nikos Papadogiannakis, Maj A Hultén, Papadogiannakis, Nikos, Westgren, Magnus, Jonsson, Anna Maria, Tankimanova, Maira, Patel, Suketu D., Iwarsson, Erik, Maira Tankimanova, Anna Jonsson, Magnus Westgren, Erik Iwarsson, Hultén, Maj A., Suketu D Patel, Westgren, M,, Patel, SD, Papadogiannakis, N,, Jonsson, AM, Tankimanova, M, Hulten, MA, Iwarsson, E,   +20 more
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JDong-pku/South-Altyn-Orogen v.1.0

, 2019
<p><a href="https://github.com/JDong-pku/South-Altyn-Orogen/files/4006736/Supporting.Information.S1.docx">Supporting Information S1.docx</a></p ...
JDong-pku
core   +1 more source

Metabolic effects of a high-fat diet post-weaning after low maternal dietary folate during pregnancy and lactation [PDF]

, 2014
Scope Investigate the influence of low-folate supply during pregnancy and lactation on obesity and markers of the metabolic syndrome in offspring, and how provision of a high-fat diet post weaning may exacerbate the resultant phenotype.
Sabine A. S. Langie, Caroline Manus, Jill A. McKay, Mckay, Jill A., Maxwell, Ross J., Manus, Caroline, Dianne Ford, Maxwell, Ross, Long Xie, Ross J. Maxwell, Langie, Sabine A.S.; id_orcid, Xie, Long, Mathers, John C., McKay, Jill, Langie, Sabine, Ford, Dianne, John C. Mathers   +16 more
core   +1 more source

Engineering Bacteria for Medicine: Delivery, Diagnosis, and Therapy

iMetaMed, Volume 2, Issue 3, September 2026.
ABSTRACT With rapid advances in synthetic biology and genetic engineering, genetically engineered bacteria (GEB) have emerged as a promising platform for biological therapy, addressing key limitations of conventional drug delivery systems and demonstrating significant clinical potential.
Shiyu Xia, Guiling Fu, Xiaoyue Ding, Wen Yang, Ruijie Bai, Yawei Cai, Jing xuan Zhang, Yanxia Wei, Conghui Han, Yi‐Zhou Gao, Ying Li, Zuobin Zhu   +11 more
wiley   +1 more source

Tailor-made Maternal PKU Diet Education and Women with PKU: Reproductive Experiences and Needs Throughout the Journey

, 2022
The output was commissioned for an international event for healthcare professionals to gain an insight into the metabolic PKU (Phenylketonuria) condition and the maternity perspective.
Chimiak, Tom
core   +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

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

Maternal PKU: Defining phenylalanine tolerance and its variation during pregnancy, according to genetic background

, 2020
Background and aims: Phenylketonuria (PKU)-affected women may become pregnant, and dietary phenylalanine (Phe) intake must be adjusted according to Phe tolerance.
Baronio F., Cassio A., Marchesini G., Brodosi L., Bettocchi I., Cataldi S., Caletti M. T., Petroni M. L.   +7 more
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