Results 11 to 20 of about 528,073 (147)

Maternal phenylketonuria

Journal of Pediatric and Neonatal Individualized Medicine, 2013
Phenylketonuria is a hereditary metabolic disorder inherited in an autosomal recessive pattern. Elevated phenylalanine levels in a pregnant woman with phenylketonuria result in phenylalanine embryopathy.
Kristina Štuikienė, Dalia Stonienė, Jūratė Buinauskienė, Aušrelė Kudrevičienė, Eglė Markūnienė, Rasa Tamelienė   +5 more
doaj   +2 more sources

Prevention of maternal phenylketonuria. Dietary management in the preconception period and during pregnancy [PDF]

Pediatria i Medycyna Rodzinna, 2018
Phenylketonuria (Online Mendelian Inheritance in Man 261600) is the most common genetic autosomal recessive disease affecting metabolism. This diet-dependent condition is found in Poland in 1:8,000 live births.
Joanna Żółkowska, Kamil Konrad Hozyasz, Maria Nowacka   +2 more
doaj   +2 more sources

Fenilcetonúria materna: relato de caso Maternal phenylketonuria: a case report [PDF]

Revista Brasileira de Ginecologia e Obstetrícia, 2004
A fenilcetonúria materna é uma aminoacidopatia caracterizada por níveis elevados de fenilalanina plasmática na gestante, o que pode provocar anormalidades no desenvolvimento do feto, condição que se denomina síndrome de fenilcetonúria materna.
Ernesto Antonio Figueiró-Filho, Alessandro Henrique Antunes Lopes, Flávio Renato de Almeida Senefonte, Virgilio Gonçalves de Souza Júnior, Carlos Augusto Botelho, Geraldo Duarte   +5 more
doaj   +2 more sources

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

Molecular 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, Margite I. Borth, Rani H. Singh   +2 more
doaj   +2 more sources

Maternal Phenylketonuria and Offspring Outcome: A Retrospective Study with a Systematic Review of the Literature. [PDF]

Nutrients
Background: Phenylketonuria (PKU) poses significant challenges for maternal and neonatal outcomes, requiring strict adherence to dietary protocols to maintain optimal maternal phenylalanine (Phe) levels during pregnancy.
Leone G, Meli C, Falsaperla R, Gullo F, Licciardello L, La Spina L, Messina M, Lo Bianco M, Sapuppo A, Pappalardo MG, Iacobacci R, Arena A, Vecchio M, Ruggieri M, Polizzi A, Praticò AD.   +15 more
europepmc   +2 more sources

Letter to the Editor in Response to Gondrand Et al. "Real-Life Application of a Point-of-Care Biosensor for Phenylalanine in Patients With Phenylketonuria". [PDF]

J Inherit Metab Dis
Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
Carling RS, Whyte E, Moat SJ.
europepmc   +2 more sources

Behavioral Phenotyping of the Pah^enu2 Mouse Model for Phenylketonuria-A Scoping Review and Future Perspectives. [PDF]

J Inherit Metab Dis
ABSTRACT Phenylketonuria (PKU) is a rare metabolic disorder resulting from a mutation in the gene encoding the enzyme phenylalanine hydroxylase (PAH), resulting in very high phenylalanine (Phe) levels in blood and brain. A PKU mutant mouse model was developed via N‐ethyl‐N‐nitrosourea (ENU) mutagenesis, mimicking the high brain Phe content seen in ...
Cao J, Kruizinga L, Hovens IB, van der Goot E, Havekes R, van der Zee EA.   +5 more
europepmc   +2 more sources

Maternal perinatal mental health: effects on children [PDF]

, 2021
This thesis is submitted in partial fulfilment of the requirements for the degree of Doctorate in Clinical Psychology (Clin.Psy.D.) at the University of Birmingham. This thesis comprises three chapters.
Harris, Charlotte Ruth
core   +3 more sources

Additional file 1 of Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy

, 2021
Additional file 1.
Stefanie Rosenbaum-Fabian (5213282), Alexandra Jung (11727935), Oxana Joos (11727953), Christoph Baerwald (11727920), Simone Luttat (11727944), Carmen Rohde (11727914), Rudolf Georg Ascherl (11727923), Monika Joerg-Streller (11727941), Tina Winkler (11727950), Sabine Matzgen (11727947), Christina Heller (11727932), Dinah Lier (11727926), Ulrike Och (11727929), Skadi Beblo (144186), Alena Gerlinde Thiele (11727917), Kathrin Schönherr (11727938)   +15 more
core   +1 more source

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

J 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