Results 221 to 230 of about 39,677 (355)

Intronic variants in inborn errors of metabolism: Beyond the exome. [PDF]

Front Genet, 2022
Hertzog A, Selvanathan A, Farnsworth E, Tchan M, Adams L, Lewis K, Tolun AA, Bennetts B, Ho G, Bhattacharya K.   +9 more
europepmc   +1 more source

N-Acetylated Metabolites in Urine: Proton Nuclear Magnetic Resonance Spectroscopic Study on Patients with Inborn Errors of Metabolism [PDF]

, 2004
Udo F. H. Engelke, M.L.F. Liebrand-van Sambeek, J.G.N. de Jong, Jules G. Leroy, Éva Morava, Jan A. M. Smeitink, Ron A. Wevers   +6 more
openalex   +1 more source

Congenital Hypothyroidism: Long‐Term Growth and Intellectual Outcomes With a Lower Initial Levothyroxine Dose

Clinical Endocrinology, EarlyView.
ABSTRACT Objectives This study aims to review the long‐term outcome of congenital hypothyroidism (CH) and whether patient‐ or treatment‐related factors impact the outcomes, especially focusing on the initial Levothyroxine dose. Methods This is a retrospective, cross‐sectional study of the children diagnosed with CH who received Levothyroxine at Ajou ...
Jun‐Hong Park, Jae Hyuk Oh, Min Hyung Cho, Young Suk Shim, Hae Sang Lee   +4 more
wiley   +1 more source

The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat! [PDF]

J Inherit Metab Dis
den Hollander B, Hoytema van Konijnenburg EMM, Hewitson B, van der Meijden JC, Balfoort BM, Winter B, Müller AR, Wasserman WW, Ferreira CR, van Karnebeek CD.   +9 more
europepmc   +1 more source

Investigating for Inborn Errors of Metabolism with Tandem Mass Spectrometry in Ankara Region, Turkey: A 2 Years Evaluation [PDF]

, 2004
Leyla Tümer
openalex   +1 more source

Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias

Clinical Genetics, EarlyView.
This review demonstrates how amniotic fluid biochemical testing provides critical phenotypic evidence (ACMG PP4) for reclassifying variants of uncertain significance (VUS) in prenatal organic acidurias. Integrating metabolite analysis with genetic testing enhances diagnostic accuracy and enables informed clinical decisions for affected families ...
Kaili Yin, Qingwei Qi
wiley   +1 more source

Metabolic engineering as therapy for inborn errors of metabolism – development of mice with phenylalanine hydroxylase expression in muscle

, 1998
CO Harding, Krzysztof Wild, David Chang, Albee Messing, JA Wolff   +4 more
openalex   +1 more source

Which liver-disease patients need a transplant? [PDF]

, 1988
Gordon, RD, Iwatsuki, S, Kahn, D, Klintmalm, G, Koneru, B, Makowka, L, Marsh, JW, Sher, L, Starzl, TE, Staschak, S, Stieber, A, Todo, S, Tzakis, AG, Van Thiel, D   +13 more
core  

Nutritional Deficiencies Following Bariatric Surgery: A Rapid Systematic Review of Case Reports of Vitamin and Micronutrient Deficiencies Presenting More Than Two Years Post‐Surgery

Clinical Obesity, EarlyView.
ABSTRACT Bariatric surgery is the most clinically‐ and cost‐effective intervention for severe obesity. However, without adequate follow‐up, it can lead to nutritional deficiencies. Patients require life‐long nutritional supplements and follow‐up to prevent nutritional deficiencies from developing.
Sophie Haughton, Sarah Gentry, Helen M. Parretti   +2 more
wiley   +1 more source

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China. [PDF]

PeerJ
Zhu J, Han L, Yang P, Feng Z, Xue S.
europepmc   +1 more source