Results 41 to 50 of about 529,955 (177)

Implementation of SIJAREMAS to Reduce Maternal Mortality at Pku Muhammadiyah, Grobogan, Central Java [PDF]

open access: yes, 2018
Background: Maternal and Neonatal Referal Network Information System (Sistem Informasi Jejaring Rujukan Maternal dan Neonatal, SIJARIEMAS) is a program that seeks to strengthen the referral system of maternal and neonatal health in Indonesia by ...
Diah Rahayu Wulandari   +9 more
core   +1 more source

Association Between Preoperative Dyslipidemia and the Prognosis of Patients With Endometrial Cancer: A Retrospective Cohort Study

open access: yesThe Kaohsiung Journal of Medical Sciences, Volume 42, Issue 10, October 2026.
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

Characteristics and outcomes of pregnancies among women with phenylketonuria from the NBS Connect registry

open access: yesMolecular Genetics and Metabolism Reports
Women with phenylketonuria (PKU) should maintain blood phenylalanine (phe) concentration within the recommended range before and during pregnancy to prevent maternal PKU syndrome (MPKUS) in their offspring.
Aileen Kenneson   +2 more
doaj   +1 more source

Maternal Phenylketonuria: Consequences of Dietary Non-Adherence and Gaps in Preconception Care-A Case Report. [PDF]

open access: yesJ Clin Med
Background: Maternal phenylketonuria (PKU), a metabolic disorder caused by defective phenylalanine hydroxylase activity, requires strict lifelong dietary management to prevent toxic phenylalanine accumulation.
Donarska J, Szablewska AW, Wierzba J.
europepmc   +2 more sources

Engineering Bacteria for Medicine: Delivery, Diagnosis, and Therapy

open access: yesiMetaMed, 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   +11 more
wiley   +1 more source

Dietetic Management of Adults with Phenylketonuria (PKU) in the UK: A Care Consensus Document.

open access: yes, 2022
There is an increasing number of adults and elderly patients with phenylketonuria (PKU) who are either early, late treated, or untreated. The principal treatment is a phenylalanine-restricted diet.
Charlotte Ellerton   +17 more
core   +1 more source

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

open access: yesJournal 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   +37 more
wiley   +1 more source

Adherence to Treatment of Phenylketonuria

open access: yesJournal of Inborn Errors of Metabolism and Screening, 2015
Introduction: Phenylketonuria (PKU) is caused by the deficient activity of phenylalanine hydroxylase. Aim: To identify the factors associated with treatment adherence among patients with PKU seen at a southern Brazil reference center.
Tatiane Alves Vieira   +5 more
doaj   +1 more source

Rare Diseases in Uruguay: Focus on Infants with Abnormal Newborn Screening

open access: yesJournal of Inborn Errors of Metabolism and Screening, 2019
Introduction: Newborn Screening Program (NBS) in Uruguay includes congenital hypothyroidism (CHT), phenylketonuria (PKU), congenital adrenal hyperplasia (CAH), cystic fibrosis (CF), medium chain acyl-CoA dehydrogenase deficiency (MCADD), and Congenital ...
Mariela Larrandaburu   +8 more
doaj   +1 more source

Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe

open access: yesOrphanet Journal of Rare Diseases, 2020
Background Individuals with phenylalanine hydroxylase (PAH) deficiency lack an enzyme needed to metabolize the amino acid, phenylalanine. This leads to an increase of phenylalanine in the blood, which is associated with changes in cognitive and ...
Tracy Brock Lowe   +2 more
doaj   +1 more source

Home - About - Disclaimer - Privacy