Results 81 to 90 of about 17,115 (162)

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   +1 more source

Newborn screening for inborn errors of metabolism and endocrinopathies: an update [PDF]

, 2018
Newborn screening for inborn errors of metabolism and endocrinopathies has expanded during the last two decades, mainly owing to the introduction of new technologies such as tandem mass spectrometry and DNA analysis.
Fingerhut, Ralph, Olgemöller, Bernhard
core  

Disorders of Fatty Acid Oxidation in the Era of Tandem Mass Spectrometry in Newborn Screening

, 2008
With recent advances in laboratory technology with tandem mass spectrometry (MS/MS), the number of infants identified with a fatty acid oxidation disorder has increased dramatically.
Banta-Wright, Sandra A., Bennett, Michael J., Shelton, Kathleen C.   +2 more
core   +1 more source

AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: A review [PDF]

, 2018
Summary: Creatine deficiency syndromes, either due to AGAT, GAMT or SLC6A8 deficiencies, lead to a complete absence, or a very strong decrease, of creatine within the brain, as measured by magnetic resonance spectroscopy.
Braissant, O., Henry, H.
core  

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

, 1964
Scriba, Peter Christian
core   +1 more source

Neonatologie/Pädiatrie – Leitlinie Parenterale Ernährung, Kapitel 13 [PDF]

, 2009
There are special challenges in implementing parenteral nutrition (PN) in paediatric patients, which arises from the wide range of patients, ranging from extremely premature infants up to teenagers weighing up to and over 100 kg, and their varying ...
Bauer, Karl, Böhles, Hansjosef, Fusch, Christoph, Jochum, Frank, Koletzko, Berthold, Krawinkel, Michael, Krohn, Kathrin, Mühlebach, Stefan   +7 more
core  

Creatine deficiency syndromes and the importance of creatine synthesis in the brain [PDF]

, 2018
Creatine deficiency syndromes, due to deficiencies in AGAT, GAMT (creatine synthesis pathway) or SLC6A8 (creatine transporter), lead to complete absence or very strong decrease of creatine in CNS as measured by magnetic resonance spectroscopy.
Braissant, Olivier, Béard, Elidie, Henry, Hugues, Uldry, Joséphine   +3 more
core  

Detection of Inborn Errors of Metabolism using Tandem Mass Spectrometry among High-risk Omani Patients

Oman Medical Journal, 2012
Objectives: This is a report on the types and patterns of inborn errors of metabolism (IEMs) of amino acids, organic acids and fatty acids oxidation detected by Tandem Mass Spectrometry for a period of 10 years (1998-2008) at Sultan Qaboos University ...
Sulaiman Al Riyami, Matar Al Maney, Surendra Nath Joshi, Riad Bayoumi   +3 more
doaj  

New era in treatment for phenylketonuria: Pharmacologic therapy with sapropterin dihydrochloride

Biologics: Targets & Therapy, 2010
Cary O HardingDepartments of Molecular and Medical Genetics and Pediatrics, Oregon Health & Science University, Portland, Oregon, USAAbstract: Oral administration of sapropterin hydrochloride, recently approved for use by the US Food and Drug ...
Cary O Harding
doaj  

Dietary Inflammatory Index and Nutritional Status in Children with Inborn Errors of Metabolism on Protein-Restricted Diets. [PDF]

Nutrients
Aktaş E, Çiçek B, Okur I, İnci A, Tümer L.   +4 more
europepmc   +1 more source