Results 91 to 100 of about 565,458 (146)

Spectrum and epidemiology of rare diseases in a Chinese natural population of 14.31 million residents, 2012-2023. [PDF]

Orphanet J Rare Dis
Li MJ, Li Q, Zhao MM, Kim H, Feng RQ, Guo MN, Heng JP, Yang JK, Liu C.   +8 more
europepmc   +1 more source

Diccionario de la lengua castellana : en que se explica el verdadero sentido de las voces ... con las phrases o modos de hablar, los proverbios o refranes y otras cosas convenientes al uso de la lengua ...

Sign.: [calderón]\p6\s, A-Z\p4\s, 2A-2Z\p4\s, 3A-3Z\p4\s, 4A-4Z\p4\s, 5A-5K\p4\sTexto a dos col.Port. con orla tip. y a dos tintasGrab. xil. con el lema de la Real Academia en cabecera de A\b1\
Real Academia Española
core  

Cobalamin J Disorder in a Teenage Boy with Recurrent Abdominal Pain Attacks: A Case Report and Literature Review. [PDF]

Mol Syndromol
Aslan D, Uctepe E, Yesilyurt A, Esen FN, Dalgıç B.   +4 more
europepmc   +1 more source

S100B Protein but Not 3-Nitrotyrosine Positively Correlates with Plasma Ammonia in Patients with Inherited Hyperammonemias: A New Promising Diagnostic Tool? [PDF]

J Clin Med, 2023
Czarnecka AM, Obara-Michlewska M, Wesół-Kucharska D, Greczan M, Kaczor M, Książyk J, Rokicki D, Zielińska M.   +7 more
europepmc   +1 more source

Does Capillary or Intravenous Collection of Dried Blood Spots Affect the Results of Amino Acid and Acylcarnitine Profile Studied with Tandem Mass Spectrometry? [PDF]

Metabolites
Kadıoğlu Yılmaz B, Sivrikaya A, Ünlü A.   +2 more
europepmc   +1 more source

A case of vitamin B12 deficiency neurological syndrome in a young adult due to late-onset cobalamin C (CblC) deficiency: a diagnostic challenge. [PDF]

Biochem Med (Zagreb), 2022
Ailliet S, Vandenberghe R, Schiemsky T, Van Overbeke L, Demaerel P, Meersseman W, Cassiman D, Vermeersch P.   +7 more
europepmc   +1 more source

Clinical and genetic characteristics of late-onset cobalamin C deficiency: A multicenter study in northern China. [PDF]

Intractable Rare Dis Res
Zhang H, Wei Y, Sun Y, Zhang Y, Wang Z, Zou H, Da Y, Zhao Z, Zhang Z, Wu G, Zhao W, Tian C, Yan C, Wang C, Zhao Y.   +14 more
europepmc   +1 more source

Assessment of possible small fiber Neuropathy in early-stage vitamin B12 deficiency using electrophysiological methods. [PDF]

Arq Neuropsiquiatr
Issi ES.
europepmc   +1 more source

Historical Perspectives, Classification and Diagnostic Approaches of Inborn Errors of Metabolism: A Systematic Review and Meta-Analysis. [PDF]

Metabolites
Mutamuliza J, Gori E, Mutesa L, Debray FG.   +3 more
europepmc   +1 more source

Clinical spectrum and genetic variation of six patients with methylmalonic aciduria (MMA); a report from Iran. [PDF]

BMC Pediatr
Beyzaei Z, Moravej H, Imanieh MH, Inaloo S, Geramizadeh B.   +4 more
europepmc   +1 more source