A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case report. [PDF]
Almudhry M +6 more
europepmc +1 more source
Erster Ringversuch zur Bestimmung der Konzentrationen von L-trijodthyronin (T3) und L-Thyroxin (T4) im Serum [PDF]
Horn, K. +2 more
core
The Role of Purine Metabolism and Uric Acid in Postnatal Neurologic Development. [PDF]
Mileti LN, Baleja JD.
europepmc +1 more source
Purines, creatine, defective methylation and their biochemical and clinical relationship [PDF]
Araújo, Helena Paula de Freitas Caldeira
core
Depletion of nuclear cytoophidia in Alzheimer's disease. [PDF]
Ivanova A, Munoz DG, Woulfe J.
europepmc +1 more source
Untargeted metabolomic analysis of metabolites related to body dysmorphic disorder (BDD). [PDF]
Wang Y, Huang J.
europepmc +1 more source
Off-label prescribing of tamsulosin: A nationwide retrospective study combining prescription and regulatory data. [PDF]
Artner A +6 more
europepmc +1 more source
Purine signaling pathway dysfunction in autism spectrum disorders: Evidence from multiple omics data. [PDF]
Dai S +5 more
europepmc +1 more source
Hyperammonaemic encephalopathy due to non-functioning urea cycle as a complication to gastric bypass surgery. [PDF]
Kjærgaard K +6 more
europepmc +1 more source
Purine Nucleoside Phosphorylase Deficiency in Two Unrelated Patients with Autoimmune Hemolytic Anemia and Eosinophilia: Two Novel Mutations. [PDF]
Alizadeh Z +6 more
europepmc +1 more source

