Results 201 to 210 of about 21,421 (302)

Reconsidering the urea-to-creatinine ratio as a signal of muscle catabolism in patients with cirrhosis. [PDF]

Crit Care
Oussalah A, Haghnejad V, Audouy A, Silva Rodriguez M, Guéant JL, Namour F, Bronowicki JP.   +6 more
europepmc   +1 more source

APOE genotype influences on the brain metabolome of aging mice - role for mitochondrial energetics in mechanisms of resilience in APOE2 genotype. [PDF]

Mol Neurodegener
Borkowski K, Liang N, Zhao N, Arnold M, Huynh K, Karu N, Mahmoudiandehkordi S, Kueider-Paisley A, Kanekiyo T, Bu G, Kaddurah-Daouk R, Alzheimer’s Disease Metabolomics Consortium.   +11 more
europepmc   +1 more source

Lysine <i>α</i>-ketoglutarate reductase as a therapeutic target for saccharopine pathway related diseases. [PDF]

Front Mol Neurosci
Valderrama GV, Moreira GA, Arruda P.
europepmc   +1 more source

Prenatal Diagnosis of Dihydropteridine Reductase Deficiency in a Twin Pregnancy [PDF]

, 2017
Binkert, F., Blau, N., Guardamagna, O., Kierat, L., Matasovic, A., Ponzone, A., Ponzone, R., Spada, M., Viora, E.   +8 more
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Celebrating 50 Years of Nationwide Newborn Screening in Hungary-Review, Current Situation, and Future Directions. [PDF]

Int J Neonatal Screen
Monostori P, Szatmári I, Baráth Á, Bókay J, Csenki M, Galla Z, Gellén B, Grecsó N, Gyüre E, Halász Z, Hegedűs K, Kincs J, Kiss E, Kósa M, Lénárt I, Pálmay A, Rácz G, Szabó H, Szabó L, Tőkési V, Xue A, Zsidegh P, Szabó AJ, Bereczki C.   +23 more
europepmc   +1 more source

The Impact of Ethnic and Communication Barriers on Fatal Metabolic Emergent Management of Traumatic Injury: A Case Report. [PDF]

Reports (MDPI)
Furuta Y, Tinker RJ, Grochowsky AR, Phillips JA.   +3 more
europepmc   +1 more source

Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C type. [PDF]

Heliyon
Mondesert E, Baud B, Roubertie A, Benoist JF, Grillet PE, Cristol JP, Francois-Heude MC, Schiff M, Badiou S.   +8 more
europepmc   +1 more source

3-methylcrotonyl-CoA carboxylase deficiency in a child with developmental regression and delay: call for early diagnosis and multidisciplinary approach. [PDF]

BMJ Case Rep
Gulzar MM, Sarani ZA, Tariq M, Knerr I.
europepmc   +1 more source

Usefulness of levels of 2-methylbutyrylglycine and 2-ethylhydracrylic acid in urine for diagnosing 2-methylbutyrylglycinuria. [PDF]

Orphanet J Rare Dis
Liu H, Xu M, Chen M, Peng Y, Ye L, Yin YF, Miao JK.   +6 more
europepmc   +1 more source

Enzyme immobilization in biodegradable polymers for biomedical applications [PDF]

, 2005
Azevedo, Helena S., Costa, S. A., Reis, R. L.   +2 more
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