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Summary
MUCOLIPIDOSIS III GAMMA
MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C
252605
OMIM = Online Medalian Inheritance of Men
423470
16p13.3
rare
autosomal recessive
symptoms
aortic valvular disease
coarse facial features
contractures, joints
corneal deposits
dysmorphism
infections (severe or recurrent)
mental retardation
myopia
onset, childhood
pain, bones or joints
renal cysts
scoliosis
short stature
laboratory finding
Glycosaminoglycans, total normal-increasedurine
Oligosaccharides normal-increasedurine
Literature
Kang SL,et al.Clinical Characteristics and Outcomes of Cardiomyopathy in Barth Syndrome: The UK ExperiencePediatr Cardiol371167-1762015
Soustek MS,et al.Endurance training ameliorates complex 3 deficiency in a mouse model of Barth syndromeJ Inherit Metab Dis385915-9222015
Ryan ROMetabolic annotation of 2-ethylhydracrylic acidClin Chim Acta448091-972015
Hijikata A,et al.Structural and functional analyses of Barth syndrome-causing mutations and alternative splicing in the tafazzin acyltransferase domainMeta Gene4092-1062015
Gaspard GJ,McMaster CRCardiolipin metabolism and its causal role in the etiology of the inherited cardiomyopathy Barth syndromeChem Phys Lipids19301-102015
Ferri L,et al.Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndromeEur J Hum Genet23121708-17122015
Angelini R,et al.Cardiolipin fingerprinting of leukocytes by MALDI-TOF/MS as a screening tool for Barth syndromeJ Lipid Res5691787-17942015