Results 31 to 40 of about 19,497 (183)

Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data

Journal of Inherited Metabolic Disease, 2020
This study provides a general overview on liver and/or kidney transplantation in patients with an amino and organic acid‐related disorder (AOA) with the aim to investigate patient characteristics and global outcome in Europe. This study was an initiative
F. Molema, D. Martinelli, F. Hörster, S. Kölker, T. Tangeraas, B. D. de Koning, C. Dionisi-Vici, Monique Williams   +7 more
semanticscholar   +1 more source

Clinical biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism [PDF]

, 2001
Pulmonary surfactant is a multimolecular complex located at the air-water interface within the alveolus to which a range of physical (surface-active properties) and immune functions has been assigned. This complex consists of a surface-active lipid layer
Clements JA, Crouch E, deMello DE, Dirksen U, Doyle IR, Fisher JH, Floros J, Glasser SW, Green D, Hawgood S, Ikegami M, Ikegami M, Ikegami M, Kitamura T, Kresch MJ, Madan T, Mahut B, Mason RJ, Myrianthopoulos NC, Nogee LM, Pilot-Matias TJ, Power JHT, Prakash UBS, Reed JA, Robertson B, Rosen SH, Stoll BJ, Tredano M, Vorbroker DK, Wang J-Y   +29 more
core   +1 more source

Clinical phenotype and gene mutation of short-chain acyl-coenzyme A dehydrogenase deficiency in a Chinese family

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
Objective To analyze the clinical phenotype and genetic characteristics of short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD). Methods and Results The proband was one month and 14 days old girl, who presented mental and motor retardation ...
Xin-na JI, Ying-ying MAO, Zhi-jie GAO, Bo-jing TAN, Yun-lin LI, Ke-ming XU, Qian CHEN, Shu-hua CHEN   +7 more
doaj   +1 more source

Earwax: A potentially useful medium to identify inborn errors of metabolism?

JIMD Reports, 2020
Earwax was investigated as a source to identify patients' different inborn errors of metabolism (IEMs). Acylcarnitines, amino acids, and guanidino metabolites were measured from 28 treated patients with 11 different metabolic disorders including 3 ...
Stefan Krywawych, Maureen Cleary, Mel McSweeney, Simon Heales   +3 more
doaj   +1 more source

Gestational dating by metabolic profile at birth: a California cohort study. [PDF]

, 2016
BackgroundAccurate gestational dating is a critical component of obstetric and newborn care. In the absence of early ultrasound, many clinicians rely on less accurate measures, such as last menstrual period or symphysis-fundal height during pregnancy, or
Baer, Rebecca J, Jelliffe-Pawlowski, Laura L, Norton, Mary E, Rutherford, George W, Santos, Nicole   +4 more
core   +1 more source

Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism

Scientific Reports, 2019
Patients with inborn errors of amino acid metabolism frequently show neuropsychiatric symptoms despite accurate metabolic control. This study aimed to gain insight into the underlying mechanisms of neural dysfunction.
Alba-Aina Castells, Daniela Gueraldi, Rafel Balada, Alba Tristán-Noguero, E. Cortés-Saladelafont, F. Ramos, S. Meavilla, Mariela Mercedes de los Santos, Camila García-Volpe, R. Colomé, M. Couce, C. Sierra, A. Ormazabal, M. Batllori, R. Artuch, J. Armstrong, Soledad Alcántara, À. García-Cazorla   +17 more
semanticscholar   +1 more source

Competitive, multi‐objective, and compartmented Flux Balance Analysis for addressing tissue‐specific inborn errors of metabolism

Journal of Inherited Metabolic Disease, 2023
The inborn error of metabolism phenylketonuria (PKU, OMIM 261600) is most often due to inactivation of phenylalanine hydroxylase (PAH), which converts phenylalanine (Phe) into tyrosine (Tyr).
Yanhua Liu, H. Westerhoff
semanticscholar   +1 more source

Liquid chromatography-tandem mass spectrometry - Application in the clinical laboratory [PDF]

, 2003
This review provides a concise survey of liquid chromatography tandem mass spectrometry (LCTMS) as an emerging technology in clinical chemistry. The combination of two mass spectrometers with an interposed collision cell characterizes LCTMS as an ...
Ford RE, Kushnir MM, Kushnir MM, Muck W, Murdter TE, Rashed MS, Streit F, Taylor RL   +7 more
core   +1 more source

Differential diagnosis of (inherited) amino acid metabolism or transport disorders [PDF]

, 1992
__Abstract__ Disorders of amino acid metabolism or transport are most clearly expressed in urine. Nevertheless the interpretation of abnormalities in urinary amino acid excretion remains difficult. An increase or decrease of almost every amino acid in
Blom, W.A.M. (Wim), Huijmans, J.G.M. (Jan)   +1 more
core   +5 more sources

Nutrition process improvements for adult inpatients with inborn errors of metabolism using the i-PARIHS framework [PDF]

, 2019
This project aimed to implement consensus recommendations and innovations that improve dietetic services to promote timely referral to optimise nutritional management for adult inpatients with inborn errors of metabolism (IEM).The i-PARIHS framework was ...
Mcgill, Jim, Nisbet, Janelle, van der Meij, Barbara S., Wilkinson, Shelley A., Williams, Clare   +4 more
core   +1 more source