Results 71 to 80 of about 2,687 (100)

Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases. [PDF]

Orphanet J Rare Dis
Douillard C, Poujois A, Belmatoug N, Lidove O, Leguy-Seguin V, Mauhin W, Gorce M, Cano A, Labrune P, Mazodier K, Wicker C, Maillot F, Brassier A, Guemann AS, Habes D, Abi-Warde MT, Redonnet-Vernhet I, Germain DP, Lavigne C, Khemiri A, Mention K, Dao M, Héron B, Berger MG, Lonlay P.   +24 more
europepmc   +1 more source

More Than Just a Floppy Baby: Maintaining High Clinical Suspicion of Infant Botulism. [PDF]

Cureus
Sarintra N, Ekdahl R, Sanders SC, Slagle B, Tang K.   +4 more
europepmc   +1 more source

Optimizing gene prioritization for clinical diagnosis of metabolic genetic disorders. [PDF]

PLoS One
de Albuquerque BHDR, Lanza DCF.
europepmc   +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

Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review. [PDF]

J Inherit Metab Dis
Jaeger B, Stolwijk NN, Aaldering F, Ruys CA, Smits M, Wolf NI, Hollak CEM, Bosch AM.   +7 more
europepmc   +1 more source

Tissue specific roles of fatty acid oxidation. [PDF]

Adv Biol Regul
Smith DM, Choi J, Wolfgang MJ.
europepmc   +1 more source

Updated Gene Therapy for Renal Inborn Errors of Metabolism. [PDF]

Genes (Basel)
Hergenrother S, Husein M, Thompson C, Kalina E, Raina R.   +4 more
europepmc   +1 more source

Diagnostic impact of whole exome sequencing in neurometabolic disorders in Syrian children: a single center experience. [PDF]

Orphanet J Rare Dis
Al Khudari R, Baqla S, Al Asmar D.
europepmc   +1 more source

Children's health: insights from space medicine on metabolic health. [PDF]

NPJ Microgravity
Ferraro S, Ghani F, Tosi M, Dave A, Verduci E, Mauri A, Zuccotti G, Mason CE, Marcovina S.   +8 more
europepmc   +1 more source

Characterizing circulating biomarkers for childhood dementia disorders: A scoping review of clinical trials. [PDF]

Neurotherapeutics
D'Silva A, Barnes J, Djafar J, Bhattacharya K, Yan J, Mohammad S, Bandodkar S, Johnson A, Tchan M, Miteff C, Elvidge KL, Dale RC, Farrar M.   +12 more
europepmc   +1 more source