Results 121 to 130 of about 22,929 (214)

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China. [PDF]

PeerJ
Zhu J, Han L, Yang P, Feng Z, Xue S.
europepmc   +1 more source

Autistic feature as a presentation of Inborn Errors of Metabolism.

, 2020
Farzad Ahmadabadi, Hamid Nemati, Amirmohammad Abdolmohammadzadeh, Adel Ahadi   +3 more
openalex   +1 more source

Editorial: Inborn errors of carbohydrate metabolism [PDF]

Iván Martínez-Duncker, Ida Vanessa Doederlein-Schwartz, Melania Abreu-González, José Elías García‐Ortíz   +3 more
openalex   +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 Amino Acid Metabolism Revisited: Clinical Implications and Insights into Current Therapies

Abdul L. Shakerdi, Darragh Nerney, Eleanor J. Molloy, Ina Knerr   +3 more
openalex   +2 more sources

[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

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

Treatable inborn errors of metabolism causing intellectual disability: A systematic literature review

, 2011
Clara van Karnebeek, Sylvia Stöckler
openalex   +1 more source

Epidemiology of SARS-CoV-2 Infection in Patients with Neuromuscular Disease and Inborn Errors of Metabolism: A Cross-sectional Study for a Pediatric Outpatient Referral in Japan. [PDF]

Kobe J Med Sci
Hong S, Iketani K, Sonehara S, Hanafusa H, Nambu Y, Nozu K, Awano H, Bo R.   +7 more
europepmc   +1 more source