Results 101 to 110 of about 565,458 (146)

Application of whole exome sequencing in carrier screening for high-risk families without probands. [PDF]

Front Genet
Huang Q, Wang Z, Teng Y, Zhang W, Wen J, Zhu H, Liang D, Wu L, Li Z.   +8 more
europepmc   +1 more source

Propionic Acidemia, Methylmalonic Acidemia, and Cobalamin C Deficiency: Comparison of Untargeted Metabolomic Profiles. [PDF]

Metabolites
Sidorina A, Catesini G, Sacchetti E, Rizzo C, Dionisi-Vici C.   +4 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

Adult-onset combined methylmalonic acidemia and hyperhomocysteinemia, cblC type with aortic dissection and acute kidney injury: a case report. [PDF]

BMC Nephrol
Hao Q, Jiang B, Zhao Y, Hu Z.
europepmc   +1 more source

Abnormal biochemical indicators of neonatal inherited metabolic disease in carriers. [PDF]

Orphanet J Rare Dis
Guo F, Zhou L, Zhang F, Yu B, Yang Y, Liu Z.   +5 more
europepmc   +1 more source

Successful adult domino living donor liver transplantation in methylmalonic acidemia: case report. [PDF]

Transl Gastroenterol Hepatol
Chorley AJ, Terkivatan T, de Jonge J, Polak WG, Tran KTC, Unkhoff C, den Hoed CM, Wagenmakers MAEM, Ijzermans JNM, Minnee RC, Boehnert MU.   +10 more
europepmc   +1 more source

Inherited metabolic epilepsies-established diseases, new approaches. [PDF]

Epilepsia Open
Tokatly Latzer I, Pearl PL.
europepmc   +1 more source

Epidemiology and distribution of 207 rare diseases in China: A systematic literature review. [PDF]

Intractable Rare Dis Res
Wang Y, Liu Y, Du G, Liu Y, Zeng Y.
europepmc   +1 more source

Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability. [PDF]

Int J Neonatal Screen
Veldman A, Sikkema-Raddatz B, Derks TGJ, van Karnebeek CDM, Kiewiet MBG, Mulder MF, Nelen MR, Rubio-Gozalbo ME, Sinke RJ, de Sain-van der Velden MG, Visser G, de Vries MC, Westra D, Williams M, Wevers RA, Heiner-Fokkema MR, van Spronsen FJ.   +16 more
europepmc   +1 more source

Decreased cobalamin sensitivity and biological aging acceleration in the general population. [PDF]

J Nutr Health Aging
Tang F, Qiu H, Liu Y, Guo J, Huang Z, Fang S, Zhang Y, Wang S.   +7 more
europepmc   +1 more source