Results 31 to 40 of about 9,849 (231)

Leucinosis, or maple syrup urine disease (lecture and a clinical case)

Alʹmanah Kliničeskoj Mediciny, 2020
Maple syrup urine disease (leucinosis, short-chain ketoaciduria, branched-chain disease, branched-chain ketonuria) is an autosomal recessive disorder which is a consequence of the deficient branched-chain alpha ketoacid dehydrogenase complex.
Ju. A. Tsareva, N. I. Zryachkin, M. A. Kuznetsova, E. V. Bogacheva   +3 more
doaj   +1 more source

Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease [PDF]

, 2009
Maple syrup urine disease (MSUD) is an inherited disorder of branched-chain amino acid metabolism presenting with lifethreatening cerebral oedema and dysmyelination in affected individuals.
Ara  jo, Ba  os, Cremer, Crome, Daniel, Dhopeshwarkar, Dodd, G. E. Homanics, H. S. Paul, Hariharan, Hauber, Homanics, J. Lazovic, J. M. Flanagan, Jan, K. C. Cheng, K. F. LaNoue, K. Griffin, K. J. Skvorak, Kamei, Killian, Le Masurier, Lowry, Lo  , M. C. Bewley, Mackenzie, McKean, Morton, O'Callaghan, Ouary, Patel, Patel, Regunathan, Schadewaldt, Schmithorst, Schonberger, Sgaravatti, She, SILBERMAN, Simon, Tews, W. J. Zinnanti, Wajner, Williamson, Yudkoff   +44 more
core   +2 more sources

Menkes Maple Syrup Urine Disease: Treatment

Pediatric Neurology Briefs, 1991
Five patients with maple syrup urine disease were treated intra-venously with branched-chain amino acid-free solution of amino acids during nine episodes of acute illness and are reported from the Children’s Hospital of Philadelphia, PA.
J Gordon Millichap
doaj   +1 more source

Branched-Chain Amino Acid Negatively Regulates KLF15 Expression via PI3K-AKT Pathway. [PDF]

, 2017
Recent studies have linked branched-chain amino acid (BCAA) with numerous metabolic diseases. However, the molecular basis of BCAA's roles in metabolic regulation remains to be established.
Dong, Weibing, Liu, Yunxia, Shao, Jing, Sun, Haipeng, Wang, Yibin, Zhou, Meiyi   +5 more
core   +2 more sources

Ataxia in children: early recognition and clinical evaluation [PDF]

, 2017
Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele, Lubrano, Riccardo, Pavone, Piero, Pavone, Vito, Praticò, Andrea D., Rizzo, Renata, Ruggieri, Martino   +6 more
core   +1 more source

Maple Syrup Urine Disease and Cerebral Edema

Pediatric Neurology Briefs, 1991
Cerebral edema causing death in four children with maple syrup urine disease (MSUD) is reported from St.
J Gordon Millichap
doaj   +1 more source

Usability of NewSTEPs Data for Assessing the Characteristics of Infants with Newborn Screening Disorders

International Journal of Neonatal Screening, 2022
Most state newborn screening programs in the U.S. currently contribute case data to the Newborn Screening Technical Assistance and Evaluation Program (NewSTEPs).
Amel Omari, Sarah L. Reeves, Lisa A. Prosser, Melissa S. Creary, Ayesha Ahmad, Kao-Ping Chua   +5 more
doaj   +1 more source

Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease

Clinical Case Reports, 2018
Key Clinical Message Twelve days after birth, the child was admitted to hospital because of “poor response, lethargy, and poor appetite for 6 days” and developed into coma immediately. The ventilator is required.
Wenjie Li, Xianze Meng, Weiqing Wang, Jinfeng Lv, Yingmei Sun, Yanan Lv, Caijuan Wang, Hongqin Wang, Mei Wang, Dongpo Song   +9 more
doaj   +1 more source

Potential diagnostic of Branched-Chain Ketoaciduria by HPLC-DAD [PDF]

, 2014
A system of high performance liquid chromatography (HPLC) was used for the development and validation of efficient method for quantitative determination of three aminoacids involved in the inherited metabolic disease Branched-Chain Ketoaciduria (BCK ...
Alves, Atecla Nunciata Lopes, Assunção, Nilson Antonio, Bechara, Etelvino José Henriques, Fernandes, Liliam, Trintinalia, Maíra Magalhães   +4 more
core   +1 more source

Hyperleucinosis during infections in maple syrup urine disease post liver transplantation

Molecular Genetics and Metabolism Reports, 2021
Maple syrup urine disease (MSUD) is due to biallelic variants in one of the three genes: BCKDHA, BCKDHB, and DBT. Branched-chain alpha-ketoacid dehydrogenase complex deficiency and elevated leucine, valine, isoleucine and alloisoleucine in body fluids ...
Laura Guilder, Carlos E. Prada, Sofia Saenz, Shailly Jain-Ghai, Natalya Karp, George Mazariegos, Suzanne Ratko, Ramona Salvarinova, Saadet Mercimek-Andrews   +8 more
doaj   +1 more source