Results 141 to 150 of about 22,929 (214)

MANAGEMENT OF INBORN ERRORS OF METABOLISM: CURRENT STRATEGIES AND FUTURE DIRECTIONS

Okezie O. A.*1,2, Onyeka O.1, Iwuamadi O. C.1, Obasi M.1, Oparaocha D. G.1, Uzor S.3, Nnodim J. K.
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Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry. [PDF]

Int J Neonatal Screen
Tang C, Li L, Chen T, Li Y, Zhu B, Zhang Y, Yin Y, Liu X, Huang C, Miao J, Zhu B, Wang X, Zou H, Han L, Feng J, Huang Y.   +15 more
europepmc   +1 more source

[Detection of inborn errors of metabolism: guidelines in Mexico and other countries]. [PDF]

Rev Med Inst Mex Seguro Soc
Guerrero-Barrios S, Chiquillo-Domínguez M, Ayón-Aguilar J, Rodriguez-Alfaro SE, Méndez-Martínez S, García-Flores MA.   +5 more
europepmc   +1 more source

Bodyweight and Absolute Lymphocyte Count-Based Dosing of Rabbit Anti-thymocyte Globulin Results in Early CD4⁺ Immune Reconstitution in Patients with Inborn Errors of Metabolism Undergoing Umbilical Cord Blood Transplantation. [PDF]

Transplant Cell Ther
Drozdov D, Kandil J, Long SE, Demorest CV, Cao Q, Lund TC, Gupta AO, Boelens JJ, Orchard PJ.   +8 more
europepmc   +1 more source

Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022. [PDF]

Front Genet
Wang D, Zhang J, Yang R, Zhang D, Wang M, Yu C, Yang J, Huang W, Liu S, Tang S, He X.   +10 more
europepmc   +1 more source

Analysis of readability of the top web searches for pediatric inborn errors of fatty acid metabolism

Katelyn Sawyer, William Miller, Courtney Popp, Chloe Strege, Cindy Eide, Jakub Tolar   +5 more
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Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey. [PDF]

Int J Neonatal Screen
Belaramani KM, Chan TCH, Hau EWL, Yeung MCW, Kwok AMK, Lo IFM, Law THF, Wu H, Wong SSN, Lam SW, Ha GHY, Lau TPY, Wong TK, Or VWC, Wong RMS, Ming WL, Chow JCK, Yau EKC, Fu A, Chong JSC, Yau HC, Poon GWK, Ng KL, Chan KT, Lam YY, Hui J, Mak CM, Fung CW.   +27 more
europepmc   +1 more source

Health-related quality of life and caregiver burden of pediatric patients with inborn errors of metabolism in Japan using EQ-5D-Y, PedsQL, and J-ZBI. [PDF]

Qual Life Res
Konomura K, Numakura C, Nakamura-Utsunomiya A, Hoshino E, Tajima G, Kobayashi H, Nakamura K, Shimozawa N, Bo R, Shiroiwa T, Shigematsu Y, Fukuda T.   +11 more
europepmc   +1 more source

Selective screening of 650 high risk Iranian patients for detection of inborn error of metabolism

, 2015
Narjes Pishva, Alie Mirzaee, Zohre Karamizade, Shahnaz Pourarian, Fariba Hemmati, Mostajab Razvi, Forough Saki   +6 more
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