Results 81 to 90 of about 3,221 (198)

Tandem Mass Spectrometry in Newborn Screening

, 2004
Since 1961 newborn screening for errors of metabolism (EM) has improved the diagnosis, treatment and outcome of newborns with an EM. Recently, advances in laboratory technology with tandem mass spectrometry (MS/MS) has increased the identification of ...
Banta-Wright, Sandra, Steiner, Robert
core   +1 more source

Single amino acid supplementation in aminoacidopathies:a systematic review [PDF]

, 2014
Aminoacidopathies are a group of rare and diverse disorders, caused by the deficiency of an enzyme or transporter involved in amino acid metabolism. For most aminoacidopathies, dietary management is the mainstay of treatment.
de Groot, Martijn J., Derks, Terry G. J., Heiner-Fokkema, M. Rebecca, MacDonald, Anita, van Rijn, Margreet, van Spronsen, Francjan J., van Vliet, Danique   +6 more
core   +2 more sources

Emergency Management of Intoxication‐Type Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT In many intoxication‐type inherited metabolic disorders, the accumulation of the toxic chemical can cause acute life‐threatening emergencies. Sometimes this is the inevitable consequence of a severe metabolic defect, but it is often triggered by catabolism.
J. Dexter Tarr, Andrew A. M. Morris
wiley   +1 more source

Psychosocial Challenges Facing Young People With Inherited Metabolic Disorders and Their Parents: A Systematic Review

JIMD Reports, Volume 66, Issue 2, March 2025.
ABSTRACT Recent advancements in new‐born screening have reduced the risk of life‐threatening complications associated with inherited metabolic disorders. However, the risk of negative psychosocial effects on families persists. The aim of the present study was to systematically review the literature concerning the psychosocial challenges experienced by ...
Clara Sherlock, Kim Clarke, Norah Jordan
wiley   +1 more source

Neonatal Astrocyte Damage Is Sufficient to Trigger Progressive Striatal Degeneration in a Rat Model of Glutaric Acidemia-I [PDF]

, 2011
BACKGROUND: We have investigated whether an acute metabolic damage to astrocytes during the neonatal period may critically disrupt subsequent brain development, leading to neurodevelopmental disorders.
A Latini, Anabel Fernández, AY Abramov, BA Barres, C Eroglu, C Ferreira Gda, C Zhu, CB Funk, D Soffer, EM Powell, F Brozzi, FP Di Giorgio, G Paxinos, G Paxinos, Gabriela Casanova, GF Hoffmann, HB Stolp, J De Keyser, J Lamp, JM Bain, JP Crow, Juan Carlos Rosillo, K Yamanaka, KA Strauss, LC Schmued, LH Barbeito, Luis Barbeito, Marcie Jiménez, María Noel Sarlabós, MR Vargas, NJ Abbott, P Cassina, P Cassina, R Donato, R Sharma, R Ventimiglia, RB Rosa, RL Haynes, RL Leibel, RP Saneto, S Chatterjee, S Kolker, S Kolker, S Olivera, Sergio T. Ferreira, SI Goodman, Silvia Olivera-Bravo, SM Sullivan, SW Sauer, T Zacharaki, WJ Zinnanti   +50 more
core   +3 more sources

Screening for inborn errors of metabolism in high-risk children: a 3-year pilot study in Zhejiang Province, China [PDF]

, 2012
Background Tandem mass spectrometry (MS/MS) has been available in China for 8 years. This technique makes it possible to screen for a wide range of previously unscreened inborn errors of metabolism (IEM) using a single test.
B Wilcken, D Nagaraja, DM McHugh, F Deodato, Fan Tong, HR Yoon, L Vilarinho, L Yang, Lili Yang, LS Han, LS Han, OY Al-Dirbashi, OY Al-Dirbashi, Rulai Yang, XF Gu, Xinwen Huang, Zhengyan Zhao   +16 more
core   +3 more sources

Phenotypic and Genotypic Characteristics of Adult‐Onset Glutaric Aciduria Type 1: Report of Two Cases and a Literature Review

Brain and Behavior, Volume 15, Issue 2, February 2025.
This study reported two new cases and characterized the phenotype and genotype of adult‐onset glutaric aciduria Type 1 by literature review, emphasizing subependymal lesions and the coexistence of hyperhomocysteinemia. No clear genotype–phenotype correlation was found in adult‐onset glutaric aciduria Type 1. ABSTRACT Introduction Glutaric aciduria Type
Luhua Wei, Jieyu Li, Zhiying Xie, Ying Zhu, Jing Chen, Yawen Zhao, Yun Yuan, Yining Huang, Yanling Yang, Zhaoxia Wang, Jing Chen   +10 more
wiley   +1 more source

A Study on the Humoral and Complement Immune System of Patients with Organic Acidemia

Iranian Journal of Allergy, Asthma and Immunology, 2015
Patients with organic acidemia are prone to different infections, which lead to acidosis episodes. Some studies have evaluated the status of immune system in acidotic phase in these patients, but to the best of our knowledge no study has evaluated the ...
Faegheh Alizadeh Najjarbashi, Mehrnaz Mesdaghi, Mohammadreza Alaei, Marjan Shakiba, Aliakbar Jami, Farah Ghadimi   +5 more
doaj  

A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism

BMC Medical Genetics, 2019
Background Tandem mass spectrometry (MS MS) and simple fluorometric assays are currently used in newborn screening programs to detect inborn errors of metabolism (IEM).
Wenjie Wang, Jianping Yang, Jinjie Xue, Wenjuan Mu, Xiaogang Zhang, Wang Wu, Mengnan Xu, Yuyan Gong, Yiqian Liu, Yu Zhang, Xiaobing Xie, Weiyue Gu, Jigeng Bai, David S. Cram   +13 more
doaj   +1 more source

International consensus definitions for infection‐triggered encephalopathy syndromes

Developmental Medicine &Child Neurology, Volume 67, Issue 2, Page 195-207, February 2025.
Abstract Aim To develop standardized diagnostic criteria for ‘infection‐triggered encephalopathy syndrome (ITES)’ and five specific clinical syndromes of ITES. Method The draft definitions were based on existing criteria, standardized, and discussed by a panel of international experts using nominal group technique over 18 months to achieve consensus ...
Hiroshi Sakuma, Terrence Thomas, Carly Debinski, Michael Eyre, Velda X. Han, Hannah F. Jones, Go Kawano, Vanessa W. Lee, Stephen Malone, Toyojiro Matsuishi, Shekeeb S. Mohammad, Takayuki Mori, Hiroya Nishida, Margherita Nosadini, Jun‐ichi Takanashi, Masashi Mizuguchi, Ming Lim, Russell C. Dale   +17 more
wiley   +1 more source