Results 31 to 40 of about 499,338 (183)
The first study of successful pregnancies in Chinese patients with Phenylketonuria
BMC Pregnancy and Childbirth, 2020 Background Since the inception of newborn screening programs in China in the 1990s, pregnancy among patients with inherited, metabolic disorders has become more common.
Lin Wang +9 more
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Maternal Phenylketonuria [PDF]
Pediatrics, 2008 Elevated maternal phenylalanine concentrations during pregnancy are teratogenic and may result in growth retardation, microcephaly, significant developmental delays, and birth defects in the offspring of women with poorly controlled phenylketonuria during pregnancy.
openaire +1 more source
The Kaohsiung Journal of Medical Sciences, EarlyView.ABSTRACT Endometrial cancer (EC) is closely related to metabolic disorders. We aimed to investigate whether preoperative dyslipidemia independently affects the prognosis of patients with EC. One hundred and ninety‐four women diagnosed with EC by pathology and who had undergone standardized surgical treatment at the Affiliated Hospital of Jining Medical
Song Li +5 more
wiley +1 more source
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 +6 more
doaj +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 +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
Лечащий ВрачBackground. 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
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) +34 more
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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 +14 more
wiley +1 more source