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Xanthomatosis, Cerebrotendinous

Known as: Xanthomatosis, Cerebrotendinous [Disease/Finding], Xanthomatoses, Cerebrotendinous, CTX 
An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. It is characterized by… 
National Institutes of Health

Related topics

Related topics

28 relations
Angina PectorisAutosomal recessive inheritanceCYP27A1 geneCYP27A1 wt Allele

Broader (3)

LipoidosisXanthomatosismyelinopathy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Impact of Neoadjuvant Chemotherapy on Hypertrophy of the Future Liver Remnant after Associating Liver Partition and Portal Vein Ligation for Staged Hepatectomy.
2009
2009
Faecal carriage of CTX-M-15-producing Klebsiella pneumoniae in patients with acute gastroenteritis.
BACKGROUND & OBJECTIVE Data on extended-spectrum beta-lactamases (ESBLs) produced by Gram-negative bacteria including Klebsiella… 
Highly Cited
2004
Highly Cited
2004
Safety and Efficacy of a Novel Salmon Calcitonin (sCT) Technology‐Based Oral Formulation in Healthy Postmenopausal Women: Acute and 3‐Month Effects on Biomarkers of Bone Turnover
Oral administration of calcitonin could improve compliance to long‐term treatment. Efficacy and safety of a novel oral… 
Highly Cited
2004
Highly Cited
2004
Low-threshold L-type calcium channels in rat dopamine neurons.
Ca(2+) channel subtypes expressed by dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc) were studied using… 
2004
2004
The Effect of Raloxifene on Markers of Bone Turnover in Older Women Living in Long‐Term Care Facilities
Objectives: To examine the effect of raloxifene on bone turnover in elderly women. 
Highly Cited
2003
Highly Cited
2003
Bone remodeling markers in the detection of bone metastases in prostate cancer.
2002
2002
An immunoassay for type I collagen alpha 1 helicoidal peptide 620-633, a new marker of bone resorption in osteoporosis.
Review
2001
Review
2001
Plasma non-cholesterol sterols.
Highly Cited
1999
Highly Cited
1999
Biochemical markers of bone turnover after surgical menopause and hormone replacement therapy.
Highly Cited
1995
Highly Cited
1995
Block of multiple presynaptic calcium channel types by omega-conotoxin-MVIIC at hippocampal CA3 to CA1 synapses.
1. The effect of the voltage-dependent Ca channel (VDCC) antagonist omega-conotoxin-MVIIC (omega-CTx-MVIIC) on the presynaptic Ca… 
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