Results 111 to 120 of about 19,497 (183)

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

Metabolic Diet App Suite for inborn errors of amino acid metabolism.

Molecular Genetics and Metabolism, 2016
G. Ho, K. Ueda, Roderick F A Houben, J. Joa, Alette Giezen, B. Cheng, C. V. van Karnebeek   +6 more
semanticscholar   +1 more source

Updated Gene Therapy for Renal Inborn Errors of Metabolism. [PDF]

Genes (Basel)
Hergenrother S, Husein M, Thompson C, Kalina E, Raina R.   +4 more
europepmc   +1 more source

Hormonal Crossroads in Inborn Errors of the Metabolism Impact of Puberty and Dietary Interventions on Metabolic Health. [PDF]

Metabolites
Lundqvist T, Stenlid R, Halldin M.
europepmc   +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

Benefits of Integrated Social Care in the Management of Patients With Inborn Errors of Metabolism. [PDF]

JIMD Rep
Selvanathan A, Nazir S, van Wyk K, Simpson E, Holmes V, Hutton R, White F, Schwahn BC.   +7 more
europepmc   +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

Sex-based estimation of biological variation in plasma-free amino acid concentrations among healthy adults

Journal of Mass Spectrometry and Advances in the Clinical Lab
Introduction: Free amino acid (FAA) analysis plays a crucial role in diagnosing and monitoring inborn errors of metabolism, assessing nutritional status, and identifying metabolic imbalances associated with various diseases.
Müjgan Ercan, Emiş Deniz Akbulut, Ayşen Caniklioğlu, Esra Fırat Oğuz, Yakup Dülgeroğlu, Esin Avcı, Şerif Ercan   +6 more
doaj  

Successful Pregnancy Management of a Woman With Severe Methylmalonic Acidemia. [PDF]

JIMD Rep
Woidy M, Tsiakas K, Mahmud M, Eich G, Loos S, Lisfeld J, Schultz S, Tallarek AC, Hecher K, Huber TB, Muntau AC, Gramer G.   +11 more
europepmc   +1 more source