Results 71 to 80 of about 13,382 (149)

Ammonia toxicity to the brain [PDF]

, 2018
Hyperammonemia can be caused by various acquired or inherited disorders such as urea cycle defects. The brain is much more susceptible to the deleterious effects of ammonium in childhood than in adulthood.
Braissant, Olivier, Cudalbu, Cristina, McLin, Valérie   +2 more
core  

Effects of Granulocyte-Colony-Stimulating Factor in Neutropenic AIDS-Patients [PDF]

, 1992
Bogner, Johannes R., Goebel, Frank-Detlef, Heinrich, B., Kronawitter, U., Matuschke, A.   +4 more
core   +1 more source

Biogenesis of Organelles and Membrane Proteins. [PDF]

, 1988
Harmey, Matthew A., Neupert, Walter, Nicholson, Donald W., Stuart, Rosemary A.   +3 more
core   +1 more source

Untargeted Metabolomic and Lipidomic Profiling Reveals Distinct Biochemical Patterns in Treated Biotinidase Deficiency. [PDF]

Int J Mol Sci
Ünlü Torlak E, Koç Yekedüz M, Bülbül YE, Kara İS, Erdoğan Kablan S, Eylem CC, Uçar B, Süslü İ, Baysal İ, Yabanoğlu Çiftçi S, Eminoğlu FT, Nemutlu E, Köse E.   +12 more
europepmc   +1 more source

Holocarboxylase Synthetase Deficiency: A Second Case Report With Neonatal Cholestatic Liver Disease. [PDF]

JIMD Rep
Manoy S, Murray C, Lynch M, Minto T, Choo K, Bursle C, Lipke M, McGill J, Inwood A, Coman D.   +9 more
europepmc   +1 more source

Clinical and genetic analysis of four Chinese patients with holocarboxylase synthetase deficiency and metabolic acidosis. [PDF]

Orphanet J Rare Dis
Zheng Z, Peng W, Lin Y, Lin W, Wang G.
europepmc   +1 more source

EFSA NDA Panel (EFSA Panel on Dietetic Products, Nutrition and Allergies), 2014. Scientific Opinion on Dietary Reference Values for biotin [PDF]

, 2014

core   +1 more source

The Usefulness of Basic Laboratory Analyses in Diagnostics of Inherited Metabolic Diseases in Children. [PDF]

Diagnostics (Basel)
Lipiński P, Doroba A.
europepmc   +1 more source

Neonatal Presentation of a Case of Carbonic Anhydrase VA Deficiency. [PDF]

Cureus
Baheer Abdulwahhab S, Ahmed A, Ben Omran T.   +2 more
europepmc   +1 more source

Inherited metabolic disorders: presentation, clinical types, laboratory diagnosis and genetic markers. [PDF]

Orphanet J Rare Dis
Ijaz A, Abbas S, Shabbir M, Badshah Y, Abid F, Afsar T, Razak S.   +6 more
europepmc   +1 more source