Results 91 to 100 of about 1,288 (135)

A mechanism of global gene expression regulation is disrupted by multiple disease states and drug treatments. [PDF]

PLoS One
Pickard BS.
europepmc   +1 more source

Phosphoribosylformylglycinamidine Synthase (PFAS) Deficiency: Clinical, Genetic and Metabolic Characterisation of a Novel Defect in Purine de Novo Synthesis. [PDF]

J Inherit Metab Dis
Zikanova M, Skopova V, Stuurman KE, Baresova V, Souckova O, Hnizda A, Krijt M, Bleyer AJ, Zeman J, Kmoch S.   +9 more
europepmc   +1 more source

Assembled human microbiome and metabolome in chronic kidney disease: Dysbiosis a double-edged sword interlinking Circ-YAP1, Circ-APOE & Circ-SLC8A1. [PDF]

Toxicol Rep
Zaki EA, Afifi SM, Ammar NM, Kadry MO.
europepmc   +1 more source

Differential utilization of vitamin B₁₂-dependent and independent pathways for propionate metabolism across human cells. [PDF]

J Biol Chem
Gouda H, Ji Y, Rath S, Watkins D, Rosenblatt D, Mootha V, Jones JW, Banerjee R.   +7 more
europepmc   +1 more source

Symphonies of metabolomics:Utilizing graphs as sheet music to orchestrate biochemical interactions relevant in health and disease [PDF]

Slenter, Denise Nicole Smaragda Michelle
core   +1 more source

CRISPR/Cas-Based Ex Vivo Gene Therapy and Lysosomal Storage Disorders: A Perspective Beyond Cas9. [PDF]

Cells
Leal AF, Prieto LE, Pachajoa H.
europepmc   +1 more source

Role and Function of Dehydrogenases in CNS and Blood-Brain Barrier Pathophysiology [PDF]

, 2012
Cucullo, L, Naik, P., Prasad, S.
core   +2 more sources

An evaluation of untargeted metabolomics methods to characterize inborn errors of metabolism. [PDF]

Mol Genet Metab
Wurth R, Turgeon C, Stander Z, Oglesbee D.   +3 more
europepmc   +1 more source

The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry [PDF]

, 2014
Azzari, Chiara, Canessa, Clementina, Daniela, Ombrone, Giocaliere, Elisa, Guerrini, Renzo, La Marca, Giancarlo, Lippi, Francesca, Maria Luisa Della Bona,, Massimo, Resti, Romano, Francesca, Sabrina, Malvagia, Silvia, Funghini   +11 more
core   +1 more source

Hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency: an EBMT-IEWP retrospective study.

Blood
Herrmann US, Felber M, Worth A, Haskologlu S, Dogu F, Lewis VA, Strahm B, Groll A, Gennery AR, Hauck F, Wynn R, Coussons M, Meyts I, Lindemans C, Bordon V, Bredius RGM, Kühl JS, Völler M, Zirngibl F, Zaidman I, Laberko A, Zeilhofer U, Hauri-Hohl M, Lankester A, Ikinciogullari A, Guilcher GMT, Hackenberg A, Yeşilipek A, Davies G, Rao K, Hershfield MS, Parikh SH, Gilbert P, Bettoni da Cunha Riehm C, Albert MH, Schulz AS, Hönig M, Neven B, Güngör T.   +38 more
europepmc   +1 more source