Zobrazeno 1 - 10
of 336
pro vyhledávání: '"Harvey L. Levy"'
Autor:
Malak Ali Alghamdi, Anne O'Donnell‐Luria, Naif A. Almontashiri, Wajeih Y. AlAali, Hebatallah H. Ali, Harvey L. Levy
Publikováno v:
JIMD Reports, Vol 64, Iss 5, Pp 312-316 (2023)
Abstract Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism resulting from a deficiency of phenylalanine hydroxylase (PAH). If untreated by dietary restriction of phenylalanine intake, impaired postnatal cognitive development
Externí odkaz:
https://doaj.org/article/a5750c53bc33416db906f5d4a48ad006
Autor:
Lynn W. Bush, Harvey L. Levy
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 1, p 12 (2024)
We look to the past as prologue for guidance in predicting and circumventing potential psychosocial–ethical challenges, including those that may influence the attachment process for some parents. We consider the evolution of bioethics and developme
Externí odkaz:
https://doaj.org/article/94eb3aeffb3b4520b2473cdc0a1346ac
Autor:
Woo Jin Hwang, Han Hyuk Lim, Yoo-Mi Kim, Mea Young Chang, Hong Ryang Kil, Jae Young Kim, Wung Joo Song, Harvey L. Levy, Sook-Za Kim
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Repeated inflammation of the pancreas can cause pancreatitis or diabetes. It is well recognized that the organic acidemias may be complicated by pancreatitis but less recognized are other metabolic disorders in which pancreatitis
Externí odkaz:
https://doaj.org/article/d6c6f12b9e9948ccbb408ed2d9e61ffd
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 18, Iss , Pp 14-18 (2019)
Urocanic aciduria is caused by a deficiency in the enzyme urocanase (E.C. 4.2.1.49) encoded by the gene UROC1. In the past, deficiency of urocanase has been associated with intellectual disability in a few case studies with some suggestion that the e
Externí odkaz:
https://doaj.org/article/d383456f1d174c2d8e2911a232af1490
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 22, Iss , Pp - (2020)
Externí odkaz:
https://doaj.org/article/5d60471afe104b719648495c071bf4ff
Autor:
Ingrid A. Holm, Pankaj B. Agrawal, Ozge Ceyhan-Birsoy, Kurt D. Christensen, Shawn Fayer, Leslie A. Frankel, Casie A. Genetti, Joel B. Krier, Rebecca C. LaMay, Harvey L. Levy, Amy L. McGuire, Richard B. Parad, Peter J. Park, Stacey Pereira, Heidi L. Rehm, Talia S. Schwartz, Susan E. Waisbren, Timothy W. Yu, The BabySeq Project Team, Robert C. Green, Alan H. Beggs
Publikováno v:
BMC Pediatrics, Vol 18, Iss 1, Pp 1-10 (2018)
Abstract Background The greatest opportunity for lifelong impact of genomic sequencing is during the newborn period. The “BabySeq Project” is a randomized trial that explores the medical, behavioral, and economic impacts of integrating genomic se
Externí odkaz:
https://doaj.org/article/ef710afcaf8e4d019d8c6869cf074068
Autor:
Harvey L. Levy
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 4, p 67 (2021)
Classic homocystinuria (HCU) was added to newborn screening (NBS) by Robert Guthrie a few years after the disorder was first described. The justification for NBS was similar to that for PKU, that presymptomatic identification and early dietary treatm
Externí odkaz:
https://doaj.org/article/f94126aaf1934ff1af360bc7b52a364a
Autor:
Bridget M. Stroup, Sangita G. Murali, Nivedita Nair, Emily A. Sawin, Fran Rohr, Harvey L. Levy, Denise M. Ney
Publikováno v:
Data in Brief, Vol 13, Iss , Pp 377-384 (2017)
This article provides original data on median dietary intake of 18 amino acids from amino acid medical foods, glycomacropeptide medical foods, and natural foods based on 3-day food records obtained from subjects with phenylketonuria who consumed low-
Externí odkaz:
https://doaj.org/article/1dc09805e2c5404ca3f1c06df22c78fb
Autor:
Harvey L. Levy
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 1, p 2 (2021)
The potential for genomic screening of the newborn, specifically adding genomic screening to current newborn screening (NBS), raises very significant ethical issues. Regardless of whether NBS of this type would include entire genomes or only the codi
Externí odkaz:
https://doaj.org/article/18d6953a9c9c48c4b0f368b6360a8bfd
Autor:
Harvey L. Levy
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 1, p 5 (2021)
Routine newborn screening for many disorders is now so ingrained in newborn care that there is no question about whether it should be done. However, acceptance of newborn screening was not guaranteed when Robert Guthrie introduced it for phenylketonu
Externí odkaz:
https://doaj.org/article/7ab7bb737b7542be88a4c84d68c6262e