Results 291 to 300 of about 26,055 (351)

Portal diversion for inborn errors of metabolism: With special reference to glycogen storage disease, Type II hyperlipidemia, and juvenile Gaucher's disease [PDF]

, 1978
Putnam, CW, Starzl, TE
core  

Neonatal Hyperammonemia Due to Ureaplasma Sepsis

Annals of the Child Neurology Society
Catherine A. Kronfol, Aaron W. Hocher, E. Steve Roach   +2 more
doaj   +1 more source

A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA). [PDF]

JIMD Rep
Gragnaniello V, Galderisi A, Tucci S, Doimo M, Caterino M, Loro C, Cazzorla C, Ruoppolo M, Salviati L, Burlina AB.   +9 more
europepmc   +1 more source

Liver homotransplantation [PDF]

, 1977
Putnam, CW, Starzl, TE
core  

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

Parental Specific Expression by scRNA‐Seq Reveals HaWRKY40 Contributing to Heterosis of Sunflower

Plant Biotechnology Journal, EarlyView.
Yuliang Han, Juncheng Zhang, Maohong Cai, Siqi Zhang, Wenting Dai, Zhonghua Lei, Qixiu Huang, Lijun Xiang, Tao Chen   +8 more
wiley   +1 more source

An adenine model of inborn metabolism errors alters TDP-43 aggregation and reduces its toxicity in yeast revealing insights into protein misfolding diseases. [PDF]

Microb Cell
Park S, Park SK, Blair P, Liebman SW.
europepmc   +1 more source

Malignancy and Autoimmune Susceptibility in Adult Patients with Human Inborn Errors of Immunity. [PDF]

J Clin Immunol
Segura-Tudela A, Nieto-López C, Bermejo-Olivera FJ, Andara LA, Arroyo-Ródenas J, Dueñas-Prieto L, Alfocea-Molina Á, Paz-Artal E, Pleguezuelo D, Cabrera-Marante O, Allende LM.   +10 more
europepmc   +1 more source

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Inborn Errors of Metabolism

The Endocrinologist, 1966
This volume replaces and expands five-fold the "Appendix on Laboratory Methods" which concluded the single volume of the first edition of Hsia's monograph. The tests described number 123. They are, with few exceptions, of the organic chemical variety and for the most part quantitative in nature.
Victor H. Auerbach, Angelo M. DiGeorge
  +10 more sources