The Demographics and Distribution of Type B Niemann-Pick Disease: Novel Mutations Lead to New Genotype/Phenotype Correlations

References

Page 1

	Year	Citations
The metabolic and molecular bases of inherited disease Ying-Tsong Chen Medical Entomology and Zoology Disease MechanismGenetic DisorderGeneticsInherited Metabolic DiseaseMetabolic Disease	2001	6.9K
Online Mendelian Inheritance in Man 'OMIM'. Sangeeta Amladi PubMed Mendelian DisorderHuman OriginAnthropologyMendelian InheritanceOnline Mendelian Inheritance	2007	870
Lysenin, a Novel Sphingomyelin-specific Binding Protein Akiko Yamaji, Yoshiyuki Sekizawa, Kazuo Emoto, Journal of Biological Chemistry PhytoalexinProteinlipid InteractionProtein SecretionProtein FunctionSignal Transduction	1998	342
Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs Edward H. Schuchman, Mariko Suchi, Takayuki Takahashi, Journal of Biological Chemistry Type 1BiosynthesisCellular EnzymologyBiochemistryMedicine	1991	214
Zinc interactions and conserved motifs of the cGMP-binding cGMP-specific phosphodiesterase suggest that it is a zinc hydrolase. Sharron H. Francis, Janet L. Colbran, Linda M. McAllister‐Lucas, Journal of Biological Chemistry	1994	153
Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1) Edward H. Schuchman, Orna Levran, Lygia V. Pereira, Genomics Human Acid SphingomyelinaseCellular EnzymologyBiochemistryNatural SciencesComplete Nucleotide Sequence	1992	135
Stimulation of Acid Sphingomyelinase Activity by Lysosomal Lipids and Sphingolipid Activator Proteins Thomas Linke, Gundo Wilkening, Stephanie Lansmann, Biological Chemistry	2001	114
Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients. Orna Levran, Robert J. Desnick, Edward H. Schuchman Proceedings of the National Academy of Sciences GeneticsGenetic EpidemiologyPathologyMolecular BiologyTotal Rna	1991	104
Characterization of human acid sphingomyelinase purified from the media of overexpressing Chinese hamster ovary cells Xingxuan He, Sílvia R.P. Miranda, Xiaoling Xiong, Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology Human Acid SphingomyelinaseBiochemistryNatural SciencesCellular BiochemistryMedicine	1999	99
Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients. Orna Levran, Robert J. Desnick, Edward H. Schuchman Journal of Clinical Investigation GeneticsGenetic EpidemiologyImmunologyPathologyDisease Gene Identification	1991	90

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