Results 231 to 240 of about 38,522 (353)

Metabolic engineering as therapy for inborn errors of metabolism – development of mice with phenylalanine hydroxylase expression in muscle

, 1998
CO Harding, Krzysztof Wild, David Chang, Albee Messing, JA Wolff   +4 more
openalex   +1 more source

A Practical Guide to Genetic Eye Conditions for Paediatricians

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Richard Lin, Alan Ma, Benjamin M. Nash, Zachary McPherson, John R. Grigg, Robyn V. Jamieson   +5 more
wiley   +1 more source

[Epilepsy and inborn errors of metabolism]. [PDF]

Rev Neurol
Moya-López S, Ruiz-Colodrero A, Sainz-García J, Fariña-Jara V, García-Jiménez MC, Castejón-Ponce E, López-Pisón J, Pérez-Delgado R.   +7 more
europepmc   +1 more source

Results of the cord blood transplantation study (COBLT): Clinical outcomes of unrelated donor umbilical cord blood transplantation in pediatric patients with inborn errors of metabolism [PDF]

, 2005
Joanne Kurtzberg, S.L. Carter, Indira Sahdev, Donna A. Wall, Daniel Pietryga, John E. Wagner, Nancy A. Kernan   +6 more
openalex   +1 more source

Adherence to the Lebanese National Dietary and Lifestyle Guidelines for Pregnancy and Its Association With Postpartum Weight Retention

Maternal &Child Nutrition, EarlyView.
ABSTRACT The Lebanese National Dietary and Lifestyle Guidelines for Pregnancy (DLGP) were developed to foster maternal and child health. The study aims to examine adherence to the DLGP and investigate its association with postpartum weight retention at 6 months (PPWR6).
Fatima Al Zahraa Chokor, Simone J. P. M. Eussen, Matty Crone, Mariam Abdulmalik, Jennifer Ayoub, Pamela Zgheib, Aya Chatila, Lara Nasreddine, Farah Naja   +8 more
wiley   +1 more source

Inborn errors of metabolism in neonates and pediatrics on varying dialysis modalities: a systematic review and meta-analysis. [PDF]

Pediatr Nephrol
Raina M, Doshi K, Myneni A, Tibrewal A, Gillen M, Hu J, Bunchman TE.   +6 more
europepmc   +1 more source

Genomic insights on conservation priorities for North Sea houting and European lake whitefish (Coregonus spp.)

Molecular Ecology, EarlyView.
Abstract Population genomics analysis holds great potential for informing conservation of endangered populations. We focused on a controversial case of European whitefish (Coregonus spp.) populations. The endangered North Sea houting is the only coregonid fish that tolerates oceanic salinities and was previously considered a species (C.
Aja Noersgaard Buur Tengstedt, Shenglin Liu, Magnus W. Jacobsen, Camilla Gundlund, Peter Rask Møller, Søren Berg, Dorte Bekkevold, Michael M. Hansen   +7 more
wiley   +1 more source

AminoApp: The First Brazilian Application for Dietary Monitoring of Inborn Errors of Metabolism in Patients on a Low-Protein Diet. [PDF]

Healthc Inform Res
Franceschetto BF, Orlandi JM, Rosa WC, Scortegagna ML, Farret L, Schwartz IVD, Poloni S.   +6 more
europepmc   +1 more source

Molecular diagnosis and inborn errors of metabolism: A practitioner’s view

, 2000
Stephen D. Cederbaum
openalex   +1 more source

Neonatal screening for inborn errors of metabolism [PDF]

, 2005
Pia Hardelid, Carol Dezateux
openalex   +1 more source