Results 171 to 180 of about 167,642 (275)

Amino Acid Profile and Lactate Pyruvate Ratio: Potential Adjunct Markers for Differentiating Inborn Errors of Metabolism

Indian Journal of Clinical Biochemistry, 2019
Prajna P. Shetty, K. Nagendra, K. Nalini, P. Rao, N. Bhaskaranand, V. Belle   +5 more
semanticscholar   +1 more source

Rare biochemical & genetic conditions: clues for broader mechanistic insights. [PDF]

Cell Mol Life Sci
Mentis AA, Dalamaga M.
europepmc   +1 more source

Effect of adrenocorticotropin or adenosin-3',5'-monophosphate on in vitro adrenal synthesis [PDF]

, 1964
Scriba, Peter Christian
core   +1 more source

Nutritional Management of Patients with Inborn Errors of Metabolism. [PDF]

Nutrients
Couce ML, Vitoria I.
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

Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors. [PDF]

J Inherit Metab Dis
Lamari F, Rossignol F, Mitchell GA.
europepmc   +1 more source

Methylmalonic acidemia with recurrent hemophagocytic lymphohistiocytosis: a case report and review of the literature. [PDF]

BMC Pediatr
Yamashita F, Akamine S, Chong PF, Maeda K, Kawakami S, Lee S, Ishimura M, Murayama K, Sakai Y, Kira R.   +9 more
europepmc   +1 more source

Coexistence of a Leaky SCID Phenotype With Hyperphenylalaninemia in an Adult Case. [PDF]

Case Reports Immunol
Musabak U, Erdogan T, Akcay MS, Ceylaner S.   +3 more
europepmc   +1 more source

Tandem mass spectrometry in screening for inborn errors of metabolism: comprehensive bibliometric analysis. [PDF]

Front Pediatr
Kononets V, Zharmakhanova G, Balmagambetova S, Syrlybayeva L, Berdesheva G, Zhussupova Z, Tautanova A, Kurmambayev Y.   +7 more
europepmc   +1 more source

A Case of Hyperammonemia Not Attributable to Liver Disease and Treated With IV Ammonia Scavengers. [PDF]

Cureus
Thomas J, George A, Mrittika S, Ahmad B, Wilcox G.   +4 more
europepmc   +1 more source