Pages that link to "Q24631977"

The following pages link to 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 (Q24631977):

Displaying 34 items.

• Molecular Cloning of the Acid Sphingomyelinase of the Mouse and the Organization and Complete Nucleotide Sequence of the Gene (Q21994500) (← links)
• Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1) (Q28115486) (← links)
• Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models (Q28117276) (← links)
• Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease (Q28207645) (← links)
• A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate (Q28246223) (← links)
• Functional implications of novel human acid sphingomyelinase splice variants (Q28482775) (← links)
• Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease (Q33959189) (← links)
• Experiences in molecular-based prenatal screening for Ashkenazi Jewish genetic diseases (Q34399100) (← links)
• High-throughput real-time PCR-based genotyping without DNA purification (Q34452852) (← links)
• Carrier testing for autosomal-recessive disorders (Q35569738) (← links)
• Mapping the eye diseases (Q35665689) (← links)
• Three new mutations in patients with myophosphorylase deficiency (McArdle disease) (Q35888850) (← links)
• Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease (Q36594529) (← links)
• The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease (Q36882500) (← links)
• Retroviral-mediated transfer of the human acid sphingomyelinase cDNA: correction of the metabolic defect in cultured Niemann-Pick disease cells (Q36944261) (← links)
• The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations (Q37204194) (← links)
• Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD) (Q37661496) (← links)
• SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants (Q38615943) (← links)
• Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa (Q39553514) (← links)
• Systematic Genetic Analysis of the SMPD1 Gene in Chinese Patients with Parkinson's Disease (Q40532620) (← links)
• Occurrence of two molecular forms of human acid sphingomyelinase (Q41450142) (← links)
• Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland. (Q41873561) (← links)
• Acid sphingomyelinase-deficient human lymphoblasts and mice are defective in radiation-induced apoptosis. (Q42555356) (← links)
• Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients (Q42581325) (← links)
• Niemann-Pick disease type B: an unusual clinical presentation with multiple vertebral fractures (Q43947394) (← links)
• Compound heterozygosity at the sphingomyelin phosphodiesterase-1 (SMPD1) gene is associated with low HDL cholesterol (Q44329447) (← links)
• Niemann-Pick disease: sixteen-year follow-up of allogeneic bone marrow transplantation in a type B variant (Q48027732) (← links)
• A mutation in Af4 is predicted to cause cerebellar ataxia and cataracts in the robotic mouse. (Q48256073) (← links)
• Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B. (Q50498665) (← links)
• Deep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p.Ser192Alafs) in a Palestinian infant with Niemann-Pick disease type A: a case report (Q58727880) (← links)
• Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann–Pick type B and SQSTM1-associated Paget’s disease in the same individual (Q62123733) (← links)
• Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients (Q70484981) (← links)
• The R608del mutation in the acid sphingomyelinase gene (SMPD1) is the most prevalent among patients from Gran Canaria Island with Niemann-Pick disease type B (Q73267694) (← links)
• Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel (Q89769213) (← links)