Results 121 to 130 of about 115,827,059 (170)

Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024. [PDF]

Front Pediatr
Ou MM, Sun CT, Zhang L, Kong LL, Zhang LX, Zheng J, Zhang PY, Wang YM, Lin XF, Yang X.   +9 more
europepmc   +1 more source

P047: Incidental identification of citrullinemia type 1 through carrier screening post liver transplant

Genetics in Medicine Open
Gabrielle Garizio, David Niemynski, Natalia Rojas, Shideh Mofidi, David Kronn   +4 more
openaire   +1 more source

Infantile cholestasis caused by pituitary stalk interruption syndrome: a case report and review of the literature. [PDF]

Transl Pediatr
Liao X, Liu S, Zou B, Shu S, Dong C.
europepmc   +1 more source

Carrier rates for recessive monogenic diseases in the Chinese Han population: a systematic review. [PDF]

Hum Genomics
Xia Y, Ma Y.
europepmc   +1 more source

Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation. [PDF]

Int J Neonatal Screen
Zakharova EY, Baydakova GV, Baranova PV, Aleksandrova DY, Shchagina OA, Itkis YS, Milovanova NV, Nagornova TS, Ivanova ON, Nazarenko YD, Voronin SV, Chukhrova AL, Kadnikova VA, Lotnik EE, Ryadninskaya NV, Polyakov AV, Savostyanov KV, Bilalov FS, Koroteev AL, Trofimov DY, Bairova TA, Seitova GN, Mordanov SV, Matulevich SA, Nikolaeva EB, Kutsev SI.   +25 more
europepmc   +1 more source

Visualization of argininosuccinate synthetase by in silico analysis: novel insights into citrullinemia type I disorders. [PDF]

Front Mol Biosci
Gu X, Mo W, Zhuang G, Shi C, Wei T, Zhang J, Tu C, Cai Y, Liao B, Hao H.   +9 more
europepmc   +1 more source

Characteristics of patients with neonatal intrahepatic cholestasis caused by citrin deficiency in China: long-term follow-up outcomes. [PDF]

J Pediatr (Rio J)
Chen L, Lou J, Luo Y, Fang Y, Sun M, Yu J.   +5 more
europepmc   +1 more source

The Establishment of Expanded Newborn Screening in Rural Areas of a Developing Country: A Model from Health Regions 7 and 8 in Thailand. [PDF]

Int J Neonatal Screen
Wichajarn K, Sawatjui N, Prasongdee P, Panklin A, Sornkayasit K, Chungkanchana N, Tessiri S, Wintachai P, Dechyotin S, Pasomboon C, Ratanapontee J, Thanakitsuwan S, Rattanathongkom A.   +12 more
europepmc   +1 more source

Early-Onset Inherited Metabolic Diseases: When Clinical Symptoms Precede Newborn Screening-Insights from Emilia-Romagna (Italy). [PDF]

Children (Basel)
Montanari G, Candela E, Baronio F, Ferrari V, Biasucci G, Lanari M, Ortolano R.   +6 more
europepmc   +1 more source