Results 181 to 190 of about 2,017,541 (209)

Organic Acidemias of the Newborn

2017
J. Pascual
openaire   +2 more sources

Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey.

Molecular Genetics and Metabolism, 2023
Ayşe Şenol Ersak, H. T. Çak, Yılmaz Yıldız, M. Çavdar, Sıla Tunç, Nagihan Özer, Nina A. Zeltner, Martina Huemer, Ayşegül Tokatli, G. Haliloglu   +9 more
semanticscholar   +1 more source

A Deadly Case of Dehydration: Organic Acidemias in the Emergency Department.

Journal of Emergency Medicine, 2023
Alison Henning, Joshua A. Glasser
semanticscholar   +1 more source

Organic Acidemias: A Methylmalonic and Propionic Focus

Journal of Pediatric Nursing, 2008
The management of children with organic acidemias (OAs) is limited in nursing literature. This article focuses on the two more common OAs, methylmalonic and propionic acidemias. Literature search was done on PUBMED, CINAHL, OVID, UptoDate, and GeneReview. The benefit of early diagnosis and treatment has been well documented, but many unresolved aspects
openaire   +2 more sources

A simple method for rapid screening and diagnosis of common organic acidemias: quantitative detection of serum and urine organic acid profiles based on liquid chromatography-tandem mass spectrometry

Analytical and Bioanalytical Chemistry, 2022
Lizi Jin, Zhenni Liu, J. Zeng, Haijian Zhao, Jiangtao Zhang, Bo Zhu, Yu Zhang, Tianjiao Zhang, Chuanbao Zhang   +8 more
semanticscholar   +1 more source

Energy Metabolism in Branched-chain Organic Acidemias

Case Medical Research, 2019
openaire   +2 more sources

Quantitative analysis of urine acylglycines by ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS): reference intervals and disease specific patterns in individuals with organic acidemias and fatty acid oxidation disorders.

Clinica chimica acta; international journal of clinical chemistry, 2021
Judith A. Hobert, I. De Biase, T. Yuzyuk, M. Pasquali   +3 more
semanticscholar   +1 more source

Organic Acidemias and Disorders of Fatty Acid Oxidation

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics, 2021
J. Vockley
semanticscholar   +1 more source

Pancreatitis and organic acidemias

The Journal of Pediatrics, 1995
FIUMARA, Agata, BARONE, RITA MARIA ELISA, Nigro F, Ribes A, Pavone L.   +4 more
openaire   +2 more sources

Neonatal diabetes onset mimicking an organic acidemia

Endocrinología, Diabetes y Nutrición, 2022
Ana, Prado-Carro, Rebeca, Sáez-Soto, Raquel, Díaz-Soto, Ana, Moreno-Álvarez, Ana E, Laso-Alonso   +4 more
openaire   +3 more sources