Results 111 to 120 of about 1,894 (150)

Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes. [PDF]

Int J Neonatal Screen
Upadia J, Noh G, Crivelly K, Aziz E, Cunningham A, Andersson HC.   +5 more
europepmc   +1 more source

Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition. [PDF]

J Inherit Metab Dis
Veraldi S, Basso MS, Soglia G, Cirelli R, Spagnoletti G, Bernabei SM, Esposito A, Rizzo C, Cairoli S, Martinelli D, Monti L, Spada M, Pietrobattista A, Dionisi-Vici C.   +13 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

Citrullinemia

, 1968
Martti Kekomäki
core   +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

Citrin deficiency-The East-side story. [PDF]

J Inherit Metab Dis
Häberle J.
europepmc   +1 more source

Dietary Glyceryl Polyethylene Glycol Ricinoleate as an Additive to Improve Intestinal Health in Post-Weaning Piglets. [PDF]

Animals (Basel)
Decundo JM, Dieguez SN, Martínez G, Amanto FA, Maté ML, Lirón JP, Pérez Gaudio DS, Bianchi CP, Montagnon A, Soraci AL.   +9 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

Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical features, genetic characteristics, and treatment outcomes. [PDF]

BMC Gastroenterol
Zou Y, Dai Y, Liu L, Yang Q, Li W, Dong Y, Li S, Cheng Y, Dai D.   +8 more
europepmc   +1 more source

The Spanish Uniform Newborn Screening Panel (SUSP): A National Consensus Framework for Harmonized Newborn Screening. [PDF]

Int J Neonatal Screen
García-Villoria J, López-Galera RM, Delgado-Pecellín C, Rausell Félix D, Colón C, Rocha H, Pérez B, Ribes A, Couce ML, González-Lamuño D, Neonatal Screening Working Group of AECOM.   +10 more
europepmc   +1 more source