Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/S0929-693X(08)71904-3 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The Prevention of Maternal Phenylketonuria (PKU) Syndrome: The Development and Evaluation of a Specific Training Program.
Nutrients
November 2024
Department of Women and Child Health, Hospital for Children and Adolescents, University Hospitals, University of Leipzig, Liebigstraße 20 a, 04103 Leipzig, Germany.
Background: Maternal phenylketonuria (PKU) syndrome, leading to severe psychomotor retardation, microcephaly, cardiac defects and undergrowth, affects the unborn children of mothers with PKU with insufficient metabolic control during pregnancy. To improve long-term outcomes, a specific prevention program was developed.
Methods: We designed a group training program for young women with PKU (>14 years) and their partners.
Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China.
PeerJ
December 2024
Prenatal Diagnosis Center, Urumqi Maternal and Child Health Hospital, Urumqi, Xinjiang Uygur Autonomous Region, China.
To determine the disease spectrum and genetic characteristics of inborn errors of metabolism (IEM) in Xinjiang province in the northwest of China, 41,690 newborn babies were screening by tandem mass spectrometry from November 2018 to December 2021. Of these, 57 newborn babies were referred for genetic analysis by next-generation sequencing, which was validated by Sanger sequencing. A total of 36 newborn babies and one relative were diagnosed with IEM, and the overall positive predictive value was 29.
View Article and Find Full Text PDFGenetic disorders in maternal medicine.
Best Pract Res Clin Obstet Gynaecol
December 2024
UCD Perinatal Research Centre, University College Dublin, National Maternity Hospital, Dublin, Ireland.
The role of genetic testing within maternal medicine is expanding. Advancing technology and the increasing availability of genetic testing have seen more patients receiving a genetic diagnosis than ever before. Improved healthcare and understanding of these rare diseases means that many patients are living well into their reproductive years and starting families.
View Article and Find Full Text PDFPerspectives and Insights Into Phenylketonuria: Provider Narratives About the Early Years Following Newborn Screening.
Am J Med Genet C Semin Med Genet
November 2024
Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
The understanding of phenylketonuria (PKU), guidelines, and treatment landscape have evolved dramatically over the decades since newborn screen implementation. We capture this rich history from the stories and experiences of a multidisciplinary provider team from Boston Children's Hospital's PKU Clinic, who treated PKU from the early years of newborn screening and who worked together for over 40 years.
View Article and Find Full Text PDFLong-term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study.
J Inherit Metab Dis
January 2025
Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center of Groningen, University of Groningen, Groningen, The Netherlands.
Phenylketonuria is a rare inherited disorder that disrupts the metabolism of phenylalanine (Phe) to tyrosine by phenylalanine hydroxylase (PAH). Sapropterin dihydrochloride (Kuvan®) is approved for use in Europe to reduce blood Phe levels and improve Phe tolerance in sapropterin-responsive individuals. KAMPER (NCT01016392) is an observational, multinational registry assessing long-term safety and efficacy of sapropterin.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!