Results 21 to 30 of about 5,966 (238)

CRRT: trattamento della crisi metabolica grave nella maple syrup urine disease

Giornale di Clinica Nefrologia e Dialisi, 2018
non ...
Pasquale Fatuzzo, Rossella R Marchese, Roberta Aliotta, Alessandra Pani, Luca Zanoli   +4 more
doaj   +4 more sources

Studies in Maple Syrup Urine Disease [PDF]

Archives of Disease in Childhood, 1961
C. E. Dent, R. G. Westall
openalex   +5 more sources

CLASSIC MAPLE SYRUP URINE DISEASE IN A 46-DAY-OLD BABY: A CASE REPORT [PDF]

Khyber Medical University Journal, 2018
Maple syrup urine disease (MSUD) is an inborn error of amino acid metabolism secondary to enzyme defect that breaks down branched-chain amino acid (BCAA).
Zara Idrees, Arshad Khushdil, Ujala Zakir, Zeeshan Ahmed   +3 more
doaj   +3 more sources

HMG-CoA Synthase-2 Deficiency: Neonatal Hyperammonemic Coma and Abnormal Metabolic Screening Resembling Maple Syrup Urine Disease. [PDF]

JIMD Rep
ABSTRACT Mitochondrial HMG‐CoA synthase‐2 (HMGCS2) deficiency is characterized by hypoketotic hypoglycemia, metabolic acidosis, hepatomegaly, and encephalopathy with onset between 3 and 36 months of age. Approximately 50 cases were reported worldwide. We describe two patients with HMGCS2 deficiency.
Vaseenon H, Tim-Aroon T, Saengow VE, Sangcakul A, Wongkittichote P, Khongkraparn A, Wattanasirichaigoon D.   +6 more
europepmc   +2 more sources

Neonatal maple syrup urine disease case report and literature review. [PDF]

Medicine (Baltimore), 2022
Rationale: The main clinical symptoms of maple syrup urine disease (MSUD) are dehydration, acidosis, nervous system symptoms and intellectual disability. The brain imaging findings were mainly caused by cytotoxic edema.
Liu Q, Li F, Zhou J, Liu X, Peng J, Gong L.   +5 more
europepmc   +2 more sources

Genotypic and phenotypic spectrum of maple syrup urine disease in Zhejiang of China. [PDF]

QJM
Background Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder originating from defects in the branched-chain α-ketoacid dehydrogenase (BCKDH) complex encoded by BCKDHA, BCKDHB and DBT.
Yang X, Yang R, Zhang T, Tan DJ, Pan R, Chen Z, Wu D, Chen C, Xu Y, Zhang L, Li X, Shu Q, Hu L.   +12 more
europepmc   +2 more sources

Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning [PDF]

International Journal of Neonatal Screening, 2021
Maple syrup urine disease is caused by a deficiency of branched-chain alpha-ketoacid dehydrogenase, responsible for degradation of leucine, isoleucine, and valine. Biallelic pathogenic variants in BCKDHA, BCKDHB, or DBT genes result in enzyme deficiency.
Mona Sajeev, Sharon Chin, Gladys Ho, Bruce Bennetts, Bindu Parayil Sankaran, Bea Gutierrez, Beena Devanapalli, Adviye Ayper Tolun, Veronica Wiley, Janice M. Fletcher, Maria Fuller, Shanti Balasubramaniam   +11 more
openalex   +2 more sources

Intramyelinic edema in maple syrup urine disease

Annals of Indian Academy of Neurology, 2014
Leema Pauline Cornelius, B. Kannan, Viveka Saravanan, Eswaradass Prasanna Venkatesan   +3 more
doaj   +4 more sources

Treatment of COVID-19 in a Patient With Maple Syrup Urine Disease. [PDF]

Cureus, 2022
Morton KF, Goetz RL, Linscott KB, Van Wagoner NJ.   +3 more
europepmc   +3 more sources

Maple syrup urine disease [PDF]

The Journal of Pathology and Bacteriology, 1961
Summary An example of “maple syrup urine”disease was confirmed by amino acid chromatography; its description is accompanied by a summary of the clinical features found in other reported cases. The characteristic pattern is that of an infant who, after thriving for the first few days of life, begins to nurse poorly, develops progressive depression of ...
C. F. Ross, G. Dutton, L. Crome
  +10 more sources