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Low phospholipid-associated cholelithiasis

Known as: LPAC, GALLBLADDER DISEASE 1, GBD1 
 
National Institutes of Health

Related topics

Related topics

12 relations
ABCB4 geneAutosomal dominant inheritanceAutosomal recessive inheritanceBiliary Colic
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Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report
BACKGROUND Progressive familial intrahepatic cholestasis (PFIC) encompasses a group of autosomal recessive disorders with high… Expand
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Highly Cited
2017
Highly Cited
2017
RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2
Several microsatellite-expansion diseases are characterized by the accumulation of RNA foci and RAN proteins, raising the… Expand
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2014
2014
ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones.
AIM To investigate the contribution of ABCB4 mutations to pediatric idiopathic gallstone disease and the potential of hormonal… Expand
Highly Cited
2013
Highly Cited
2013
Genotype‐phenotype relationships in the low‐phospholipid‐associated cholelithiasis syndrome: A study of 156 consecutive patients
The low‐phospholipid‐associated cholelithiasis syndrome (LPAC; OMIM 171060) is a peculiar form of intrahepatic cholelithiasis… Expand
2013
2013
Functional Characterization of ABCB4 Mutations Found in Low Phospholipid-Associated Cholelithiasis (LPAC)
Multidrug resistance 3 (MDR3) is expressed on the canalicular membrane of the hepatocytes and plays an important role in… Expand
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2012
2012
What is a Dictionary
By comparing different definitions in dictionaries and in theoretical papers we know that lexicographers have very different… Expand
2011
2011
Three-dimensional reconstruction of maxillae using spiral computed tomography and its application in postoperative adult patients with unilateral complete cleft lip and palate.
PURPOSE To establish a method to analyze malformed maxillae of postoperative adult patients with unilateral complete cleft lip… Expand
2010
2010
The cholangiographic features of severe forms of ABCB4/MDR3 deficiency-associated cholangiopathy in adults.
We previously reported the association of ABCB4/MDR3 gene variants with a peculiar form of cholelithiasis in European adults… Expand
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2006
2006
Active Compensation of the Input Filter Capacitor Current in Single-Phase PFC Boost Converters
  • K. Louganski, J. Lai
  • IEEE Workshops on Computers in Power Electronics
  • 2006
    • Corpus ID: 19093899
Single-phase PFC boost converters use an input filter capacitor to limit propagation of the switching noise into the AC line… Expand
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2005
2005
Dimensions of the great arteries, semilunar valve roots, and right ventricular outflow tract during growth: Normative angiocardiographic data
SummarySystolic and diastolic diameters of the right and left pulmonary arteries (RPAD, LPAD), descending thoracic aorta (DTAD… Expand
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