Results 31 to 40 of about 8,782 (207)

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

Production and characterization of murine models of classic and intermediate maple syrup urine disease [PDF]

, 2006
Background Maple Syrup Urine Disease (MSUD) is an inborn error of metabolism caused by a deficiency of branched-chain keto acid dehydrogenase. MSUD has several clinical phenotypes depending on the degree of enzyme deficiency.
Gregg E Homanics, Kristen Skvorak, Carolyn Ferguson, Simon Watkins, Harbhajan S Paul, D Chuang, L Marshall, S Yeaman, M Yoshino, H Paul, R Paxton, F Peinemann, DH Morton, R Cox, DJ Danner, BS Khatra, A Suryawan, A Bodner-Leidecker, JC Netter, U Wendel, KA Strauss, PA Harper, B Zhang, JD Baird, J-Y Wu, SL Mansour, V Tybulewicz, A Nagy, GE Homanics, M Gossen, RL Brinster, RD Palmiter, M Kozak, GE Homanics, SM Hutson, H Paul, GW Snedecor, A Harper, A Kistner, A Mattevi, JE Knapp, DT Chuang, L Wang, S Mochizuki, GM Mueller, H Koyata, G Ambrosino, M Muraca, JH Fair, J Chuang, J Li   +50 more
core   +1 more source

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

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

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

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

Confluent Thalamic Hyperintensities in CADASIL [PDF]

, 2010
Background: CADASIL is responsible for diffuse hyperintensities in the white matter on FLAIR images. These lesions are often associated with focal lesions in the basal ganglia such as lacunar infarctions.
Chabriat, Hugues, Dichgans, Martin, Düring, Marco, Guichard, Jean-Pierre, Herve, Dominique, Jacqmin, Mathilde, Viswanathan, Anand   +6 more
core   +1 more source

Inborn errors of metabolism: a clinical overview [PDF]

, 1999
CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core   +4 more sources

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