Associated Papers
Comprehensive survey of disease-causing missense mutations of the cholesterol synthesis enzyme NSDHL: Low temperature and a chemical chaperone rescue low protein expression of select mutants.
Fenton NM et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2025
Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole-exome sequencing: A rare case report and literature review.
Zhuang J et al.
Molecular Genetics & Genomic Medicine, 2023
Single-cell exome sequencing reveals multiple subclones in metastatic colorectal carcinoma.
Tang J et al.
Genome Medicine, 2021
CHILD syndrome: A modified pathogenesis-targeted therapeutic approach.
Bergqvist C et al.
American Journal of Medical Genetics. Part A, 2018
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.
Alfadhel M et al.
Orphanet Journal of Rare Diseases, 2016
CHILD syndrome with mild skin lesions: histopathologic clues for the diagnosis.
Gantner S et al.
Journal of Cutaneous Pathology, 2014
The role of abnormalities in the distal pathway of cholesterol synthesis in the Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome.
Seeger MA et al.
Biochimica Et Biophysica Acta, 2014
Living with inborn errors of cholesterol biosynthesis: lessons from adult patients.
Cardoso ML et al.
Clinical Genetics, 2014
Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.
Herman GE et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
Malformation syndromes caused by disorders of cholesterol synthesis.
Porter FD et al.
Journal of Lipid Research, 2011
CHILD syndrome: the NSDHL gene and its role in CHILD syndrome, a rare hereditary disorder.
Avgerinou GP et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2010
Mutational spectrum of NSDHL in CHILD syndrome.
Bornholdt D et al.
Journal of Medical Genetics, 2005
A unique point mutation in the NSDHL gene in a Japanese patient with CHILD syndrome.
Murata K et al.
Journal of Dermatological Science, 2003
Localization of mammalian NAD(P)H steroid dehydrogenase-like protein on lipid droplets.
Ohashi M et al.
The Journal of Biological Chemistry, 2003
Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.
König A et al.
American Journal of Medical Genetics, 2000
Late evolution of giant verruciform xanthoma in the setting of CHILD syndrome.
Kurban M et al.
Pediatric Dermatology, 0
CHILD Syndrome: Successful Treatment of Skin Lesions with Topical Simvastatin/Cholesterol Ointment--A Case Report.
Alexopoulos A et al.
Pediatric Dermatology, 0
CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation.
Mi XB et al.
Pediatric Dermatology, 0