Results 61 to 70 of about 68,473 (259)
Phenylketonuria: Protein content and amino acids profile of dishes for phenylketonuric patients. The relevance of phenylalanine [PDF]
, 2014 Phenylketonuria is an inborn error of metabolism, involving, in most cases, a deficient activity of phenylalanine hydroxylase. Neonatal diagnosis and a prompt special diet (low phenylalanine and natural-protein restricted diets) are essential to the ...
Almeida, Manuela F. +5 more
core +1 more source
Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses
Prenatal Diagnosis, Volume 45, Issue 3, Page 276-286, March 2025.Abstract Objective This study aimed to assess the detection rate of clinically significant results of prenatal exome sequencing (pES) in low‐risk pregnancies and apparently normal fetuses in non‐consanguineous couples. Methods A retrospective analysis of pES conducted at a single center from January 2020 to September 2023 was performed.
Michal Levy +9 more
wiley +1 more source
Taiwanese Journal of Obstetrics & Gynecology, 2005 Objective: To share our experience of prenatal classical phenylketonuria (PKU) diagnosis using the polymerase chain reaction (PCR), automatic sequencing, and linkage analysis with short tandem repeats (STRs).
Wei-Min Hu +5 more
doaj +1 more source
A Comprehensive Study of Disease-Causing Variants in <i>PAH</i>, <i>QDPR</i>, <i>PTS</i>, and <i>PCD</i> Genes in Iranian Patients with Hyperphenylalaninemia: A Systematic Review [PDF]
, 2023 Mahmoud Ghanei +2 more
openalex +1 more source
American Journal of Medical Genetics Part A, Volume 197, Issue 2, February 2025.ABSTRACT Phenylketonuria (PKU) is a genetic metabolic disorder that causes the accumulation of phenylalanine (Phe) in tissues, leading to intellectual disability, seizures, and socioemotional challenges. The role of social determinants of health (SDOH) in PKU management has not been formally studied, and this investigation evaluates the association ...
Cassandra Afseth +6 more
wiley +1 more source
Erythrocytes as Carriers of Therapeutic Enzymes. [PDF]
, 2020 Therapeutic enzymes are administered for the treatment of a wide variety of diseases. They exert their effects through binding with a high affinity and specificity to disease-causing substrates to catalyze their conversion to a non-noxious product, to ...
Bax, BE
core +1 more source
Glia, Volume 73, Issue 1, Page 38-56, January 2025.Main Points We analyze myelin purified from mouse CNS tissue by quantitative proteomics. The protein composition of myelin matures between P18 and P75. Regional heterogeneity but no sex‐dependent divergence of the CNS myelin proteome. Abstract The molecules that constitute myelin are critical for the integrity of axon/myelin‐units and thus speed and ...
Sophie B. Siems +9 more
wiley +1 more source
25 Hydroxy Vitamin D Level, Bone Health, Vitamin D and Calcium Intake in Chilean Patients with Phenylketonuria and Hyperphenylalaninemias [PDF]
, 2021 Cinthya Leiva +6 more
openalex +1 more source
Management of Phenylketonuria and Hyperphenylalaninemia [PDF]
The Journal of Nutrition, 2007 Hyperphenylalaninemia (HPA) is the most frequently inherited disorder of amino acid metabolism (prevalence 1:10,000). In France, a nationwide neonatal screening was organized in 1978 to control its efficacy and patient follow-up. Phenylketonuria (PKU) was diagnosed in 81.6% of screened patients, the remaining affected with either non-PKU HPA (17.2%) or
Hélène Ogier, de Baulny +3 more
openaire +2 more sources
Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.Abstract Background Phenylketonuria (PKU) is caused by phenylalanine hydroxylase deficiency. Treatment is primarily a low‐Phe diet combined with l‐amino acid‐based products (l‐AA). Protein requirements in adults with PKU have not been directly determined.
Abrar Turki +5 more
wiley +1 more source