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Norrie disease

Known as: Anderson-Warburg Syndrome, Pseudoglioma Congenita, Norrie's Disease 
A rare, X-linked recessive inherited syndrome caused by mutations in the NPD gene. It is characterized by developmental retinal abnormalities that… 
National Institutes of Health

Related topics

Related topics

15 relations
Adhesions of irisAggressive behaviorCataractHallucinations

Broader (3)

Genetic Diseases, X-LinkedWest Syndromenervous system disorder

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2011
Highly Cited
2011
The role of impaired de novo Coenzyme A biosynthesis in pantothenate kinase-associated neurodegeneration
Coenzyme A (CoA) is an essential cofactor required for cellular metabolism. CoA is synthesized de novo from pantothenate (vitamin… 
Highly Cited
2010
Highly Cited
2010
Synthesis and characterization of amine bridged bis(phenolate) lanthanide aryloxides and their application in the polymerization of lactide.
A series of neutral lanthanide aryloxides supported by an amine bridged bis(phenolate) ligand were synthesized, and their… 
Highly Cited
2009
Highly Cited
2009
NEUROPSYCHOLOGICAL AND BEHAVIORAL OUTCOMES FROM A COMPREHENSIVE MAGNETIC RESONANCE STUDY OF CHILDREN WITH FETAL ALCOHOL SPECTRUM DISORDERS
Background Clinical and research advancements in the field of fetal alcohol spectrum disorders (FASD) require accurate and valid… 
Highly Cited
2007
Highly Cited
2007
New lanthanide-containing polytungstates derived from the cyclic P8W48 Anion: {Ln4(H2O)28[K subset P8W48O184(H4W4O12)2Ln2(H2O)10]13-}x, Ln = La, Ce, Pr, Nd.
The reaction of K28Li5H7[P8W48O184].92H2O with early lanthanides under hydrothermal and conventional conditions yields novel… 
Review
2007
Review
2007
The Wnt Signaling Pathway in Familial Exudative Vitreoretinopathy and Norrie Disease
The Wnt signaling pathway is highly conserved among species and has an important role in many cell biological processes… 
Highly Cited
2005
Highly Cited
2005
Syntheses, structures, and luminescent and magnetic properties of novel three-dimensional lanthanide complexes with 1,3,5-benzenetriacetate.
Five novel lanthanide complexes with the formulas [Nd(bta)(H2O)2.4.35H2O]n(1), [Sm(bta)(H2O)2.4.5H2O]n (2), [Eu(bta)(H2O).1.48H2O… 
Highly Cited
2004
Highly Cited
2004
Novel lanthanide coordination polymers with a flexible disulfoxide ligand, 1,2-bis(ethylsulfinyl)ethane: structures, stereochemistry, and the influences of counteranions on the framework formations.
The reactions of meso-1,2-bis(ethylsulfinyl)ethane (meso-L) with Ln(ClO(4))(3) [Ln(NO(3))(3) or Ln(NCS)(3)] in MeOH and CHCl(3… 
Highly Cited
2000
Highly Cited
2000
Improved Mean-flow Solution for Slab Rocket Motors with Regressing Walls
The Navier‐Stokes equations are solved to obtain an approximate description of the mean e ow in a slab rocket motor with two… 
Highly Cited
1998
Highly Cited
1998
Linkage of a QTL Contributing to Normal Variation in Bone Mineral Density to Chromosome 11q12–13
Osteoporosis is a leading public health problem that is responsible for substantial morbidity and mortality. A major determinant… 
Highly Cited
1975
Highly Cited
1975
NORRIE'S DISEASE
A report on six children with Norrie's disease is presented. It is shown that the diagnosis can be established in sporadic cases… 
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