Results 231 to 240 of about 36,711 (394)

Biotin Status of Epileptics [PDF]

, 1985
Achuta Murthy P. N., Berlit P., Blass J. P., Bonjour J.-P., Bonjour J.-P., Caspers H., Frigg M., Ghatak N. R., Glaser G. H., Iivanainen M., Johnston D., Krause K.-H., Krause K.-H., Krause K.-H., Meinardi H., Mock D. M., Munoz-Garcia D., Noll F., Patel M. S., Paulsen E. P., Reynolds E. H., Sander J. E., Schmidt D., Scorn D., Selhorst J. B., Sweetman L., Sydenstricker V. P., Thoene J., Vivo D. C., Watanabe T., Wolf B., Woodbury D. M., Woodbury D. M., Woodbury D. M.   +33 more
core   +1 more source

N-Acetylated Metabolites in Urine: Proton Nuclear Magnetic Resonance Spectroscopic Study on Patients with Inborn Errors of Metabolism [PDF]

, 2004
Udo F. H. Engelke, M.L.F. Liebrand-van Sambeek, J.G.N. de Jong, Jules G. Leroy, Éva Morava, Jan A. M. Smeitink, Ron A. Wevers   +6 more
openalex   +1 more source

Caring Readiness Among Parents of Children Who Have Undergone Liver Transplantation and Are Transitioning From the Intensive Care Unit: A Cross‐Sectional Study

Journal of Clinical Nursing, EarlyView.
ABSTRACT Objective To investigate the status and influencing factors of caring readiness among parents of children undergoing liver transplantation transitioning from the intensive care unit, and to explore the associations between caring readiness and other variables. Design A cross‐sectional study.
Jingyun Wu, Fangyan Lu, Zhiru Li, Yanhong Dai, Yan Wang, Li Zheng, Ruijie Bao, Yuxin Rao, Huafen Wang   +8 more
wiley   +1 more source

Investigating for Inborn Errors of Metabolism with Tandem Mass Spectrometry in Ankara Region, Turkey: A 2 Years Evaluation [PDF]

, 2004
Leyla Tümer
openalex   +1 more source

Gaucher disease, state of the art and perspectives

Journal of Internal Medicine, EarlyView.
Abstract Knowledge about Gaucher disease (GD), considered a model for rare diseases, has considerably increased since its discovery. The pathophysiology of this lysosomal disorder is better known, and specific therapies that can control many aspects of the disease have been developed, particularly for the most common form, Type 1 GD.
Fabrice Camou, Marc G. Berger
wiley   +1 more source

History of liver and other splanchnic organ transplantation [PDF]

, 1996
Starzl, TE
core  

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

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