Results 231 to 240 of about 167,513,957 (289)

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature. [PDF]

Epileptic Disord
Kapoor D, Sharma S, Kaminska A, Nabbout R, Chemaly N, Schiff M, De Lonlay P, Eisermann M.   +7 more
europepmc   +1 more source

[Epilepsy and inborn errors of metabolism]. [PDF]

Rev Neurol
Moya-López S, Ruiz-Colodrero A, Sainz-García J, Fariña-Jara V, García-Jiménez MC, Castejón-Ponce E, López-Pisón J, Pérez-Delgado R.   +7 more
europepmc   +1 more source

Normothermic Machine Perfusion of Explanted Human Metabolic Livers: A Proof of Concept for Studying Inborn Errors of Metabolism. [PDF]

J Inherit Metab Dis
Safarikia S, Cirelli R, Spagnoletti G, Martinelli D, Bravetti G, Francalanci P, D'Alessandro A, Di Felice G, Maistri M, Baldissone E, Fratti AM, Simeoli R, Sacchetti E, Cairoli S, Rizzo C, Pariante R, Vacca M, Cappoli A, Albano C, Pietrobattista A, Spada M, Vici CD.   +21 more
europepmc   +1 more source

Inborn errors of metabolism in neonates and pediatrics on varying dialysis modalities: a systematic review and meta-analysis. [PDF]

Pediatr Nephrol
Raina M, Doshi K, Myneni A, Tibrewal A, Gillen M, Hu J, Bunchman TE.   +6 more
europepmc   +1 more source

AminoApp: The First Brazilian Application for Dietary Monitoring of Inborn Errors of Metabolism in Patients on a Low-Protein Diet. [PDF]

Healthc Inform Res
Franceschetto BF, Orlandi JM, Rosa WC, Scortegagna ML, Farret L, Schwartz IVD, Poloni S.   +6 more
europepmc   +1 more source

Inborn errors of metabolism in man

International Symposium on Inborn Errors of Metabolism in Man 1977 Tēl-Āvîv, Sperling, Oded   +1 more
core  

A multiomic network approach uncovers disease modifying mechanisms of inborn errors of metabolism

Bender A, Ranea-Robles P, Williams EG, Mirzaian M, Heimel JA, Levelt CN, Wanders RJ, Aerts JM, Zhu J, Auwerx J, Houten SM, Argmann CA.   +11 more
europepmc   +1 more source