A patient with congenital generalized lipodystrophy due to a novel mutation in BSCL2: Indications for secondary mitochondrial dysfunction

JIMD Reports

Volumn 4, Issue , 2012, Pages 47-54

  Jeninga, Ellen H ^a,b,c   de Vroede, Monique ^a   Hamers, Nicole ^a,b   Breur, Johannes M P J ^a   Verhoeven Duif, Nanda M ^a,b   Berger, Ruud ^a,b   Kalkhoven, Eric ^a,b  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b NETHERLANDS METABOLOMICS CENTRE   (Netherlands)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Acanthosis nigricans; Fumaric acid; Organic acid profile; U2OS Cell; Urinary organic acid

Indexed keywords

EID: 84877922536     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2011_86     Document Type: Chapter

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