Autosomal recessive sphingolipid storage disorder. Medical search. Frequent questions

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Anatomy13

Lysosomes Fibroblasts Brain Cells, Cultured Cell Line Liver Chromosomes, Human, Pair 2 Skin Membrane Microdomains Chromosomes, Human, Pair 1 Kidney Cell Membrane Neurons

Organisms5

Mice, Knockout Mice, Mutant Strains Saccharomyces cerevisiae Mice, Inbred C57BL Cricetinae

Diseases84

Lysosomal Storage Diseases Gaucher Disease Lysosomal Storage Diseases, Nervous System alpha-Mannosidosis Fabry Disease Sphingolipidoses Niemann-Pick Disease, Type C Leukodystrophy, Metachromatic Multiple Sulfatase Deficiency Disease Polycystic Kidney, Autosomal Recessive Glycogen Storage Disease Type II Mucopolysaccharidosis II Mucolipidoses Leukodystrophy, Globoid Cell Fucosidosis Mucopolysaccharidosis I Metabolism, Inborn Errors Syndrome Niemann-Pick Diseases Mucopolysaccharidoses Neuronal Ceroid-Lipofuscinoses Sandhoff Disease Gangliosidosis, GM1 Retinitis Pigmentosa Mucopolysaccharidosis III Mucopolysaccharidosis IV Sialic Acid Storage Disease Abnormalities, Multiple Cystinosis Microcephaly Carbohydrate Metabolism, Inborn Errors Mucopolysaccharidosis VI Disease Models, Animal Wolman Disease Ichthyosis Lipid Metabolism, Inborn Errors Hypotrichosis Niemann-Pick Disease, Type A Ichthyosiform Erythroderma, Congenital Metal Metabolism, Inborn Errors Intellectual Disability Glycogen Storage Disease Type III Niemann-Pick Disease, Type B Hereditary Sensory and Autonomic Neuropathies Aspartylglucosaminuria Hydrops Fetalis Deafness Dwarfism Ichthyosis, Lamellar Osteochondrodysplasias Tay-Sachs Disease Cerebellar Ataxia Hearing Loss, Sensorineural Muscular Dystrophies Bone Diseases, Developmental Mucopolysaccharidosis VII Chromosome Disorders Osteopetrosis Eye Diseases, Hereditary Lipidoses Albinism, Oculocutaneous Nails, Malformed Charcot-Marie-Tooth Disease Genetic Diseases, Inborn Ectodermal Dysplasia Friedreich Ataxia Amino Acid Metabolism, Inborn Errors Muscular Atrophy, Spinal Genetic Predisposition to Disease Substance-Related Disorders Dysostoses Cutis Laxa Hair Diseases Hearing Loss Eye Abnormalities Foot Deformities, Congenital Microphthalmos Retinal Degeneration Optic Atrophy Muscle Hypotonia Syndactyly Hand Deformities, Congenital Kidney Diseases, Cystic Lipid Metabolism Disorders

Chemicals and Drugs73

Sphingolipids Serine C-Palmitoyltransferase Sphingolipid Activator Proteins Ceramides Sphingosine alpha-Galactosidase Glucosylceramidase Saposins Sphingomyelin Phosphodiesterase Iduronate Sulfatase Glucosylceramides Cerebroside-Sulfatase Iduronidase Sphingomyelins Fumonisins alpha-Glucosidases Glycosphingolipids Lysophospholipids Sphingosine N-Acyltransferase Ceramidases Galactosylceramidase 1-Deoxynojirimycin Phosphotransferases (Alcohol Group Acceptor)Sulfatases N-Acetylgalactosamine-4-Sulfatase Acid Ceramidase Codon, Nonsense Sulfoglycosphingolipids Imino Sugars alpha-N-Acetylgalactosaminidase Membrane Proteins Trihexosylceramides Neutral Ceramidase Chondroitinsulfatases Serine Proteases Monoglycerides Fatty Acids, Monounsaturated Thiolester Hydrolases beta-N-Acetylhexosaminidases Aldehyde-Lyases Imino Pyranoses Proteins Genetic Markers Hexosaminidase B Cholesterol Acyltransferases Lysosomal-Associated Membrane Protein 2 Glycolipids Mycotoxins Receptors, Lysosphingolipid Cathepsin A Psychosine Transient Receptor Potential Channels alpha-Mannosidase Aspartylglucosylaminase Galactosylgalactosylglucosylceramidase RNA, Messenger Lysosome-Associated Membrane Glycoproteins Seed Storage Proteins Oxidoreductases DNA, Complementary Sarcoglycans Eye Proteins TRPM Cation Channels Cerebrosides Recombinant Proteins Saccharomyces cerevisiae Proteins Lactosylceramides Glycoproteins DNA Primers Survival of Motor Neuron 1 Protein Dipeptidyl-Peptidases and Tripeptidyl-Peptidases Nerve Tissue Proteins

Analytical, Diagnostic and Therapeutic Techniques and Equipment21

Pedigree Enzyme Replacement Therapy DNA Mutational Analysis Chromosome Mapping Drug Storage Disease Models, Animal Dried Blood Spot Testing Neonatal Screening Polymerase Chain Reaction Heterozygote Detection Models, Biological Genetic Therapy Chromatography, Thin Layer Genetic Testing Sequence Analysis, DNA Blood Specimen Collection Blotting, Western Blood Preservation Electroretinography Magnetic Resonance Imaging Preservation, Biological

Psychiatry and Psychology15

Bipolar Disorder Mental Disorders Anxiety Disorders Mood Disorders Intellectual Disability Depressive Disorder, Major Attention Deficit Disorder with Hyperactivity Depressive Disorder Obsessive-Compulsive Disorder Stress Disorders, Post-Traumatic Autistic Disorder Phobic Disorders Child Development Disorders, Pervasive Psychotic Disorders Substance-Related Disorders

Phenomena and Processes39

Genes, Recessive Consanguinity Mutation Homozygote Phenotype Mutation, Missense Heterozygote Genetic Linkage Lod Score Base Sequence Amino Acid Sequence Genotype Codon, Nonsense Exons Alleles Haplotypes Genes, Dominant Frameshift Mutation Lipid Metabolism Genetic Heterogeneity Founder Effect Genetic Markers Microsatellite Repeats Exome Time Factors Chromosomes, Human, Pair 2 Point Mutation Protein Transport Autophagy Polymorphism, Single-Stranded Conformational Biological Transport Signal Transduction Chromosomes, Human, Pair 1 Gene Deletion Genetic Predisposition to Disease Sequence Deletion Sequence Homology, Amino Acid Gene Expression Endocytosis

Technology, Industry, Agriculture1

Information Science4

Molecular Sequence Data Base Sequence Amino Acid Sequence Diagnostic and Statistical Manual of Mental Disorders

Named Groups3

Infant, Newborn Jews Arabs

Health Care4

Neonatal Screening Family Health Age of Onset Genetic Testing

Geographicals1

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Psychiatry and Psychology Phenomena and Processes Technology, Industry, Agriculture Information Science Named Groups Health Care Geographicals

Genes, Recessive Lysosomal Storage Diseases Sphingolipids Consanguinity Gaucher Disease Serine C-Palmitoyltransferase Lysosomal Storage Diseases, Nervous System Pedigree Sphingolipid Activator Proteins Ceramides alpha-Mannosidosis Fabry Disease Sphingosine Enzyme Replacement Therapy alpha-Galactosidase Mutation Sphingolipidoses Niemann-Pick Disease, Type C Lysosomes Leukodystrophy, Metachromatic Glucosylceramidase Saposins Multiple Sulfatase Deficiency Disease Polycystic Kidney, Autosomal Recessive Glycogen Storage Disease Type II Sphingomyelin Phosphodiesterase Mucopolysaccharidosis II Mucolipidoses Homozygote Leukodystrophy, Globoid Cell Fucosidosis Phenotype Iduronate Sulfatase Mucopolysaccharidosis I Metabolism, Inborn Errors Syndrome Glucosylceramides Niemann-Pick Diseases Cerebroside-Sulfatase DNA Mutational Analysis Iduronidase Mucopolysaccharidoses Sphingomyelins Mutation, Missense Molecular Sequence Data Neuronal Ceroid-Lipofuscinoses Fumonisins Bipolar Disorder Heterozygote Sandhoff Disease Genetic Linkage alpha-Glucosidases Gangliosidosis, GM1 Glycosphingolipids Lysophospholipids Sphingosine N-Acyltransferase Retinitis Pigmentosa Chromosome Mapping Mucopolysaccharidosis III Mucopolysaccharidosis IV Sialic Acid Storage Disease Ceramidases Abnormalities, Multiple Mental Disorders Lod Score Drug Storage Cystinosis Galactosylceramidase Microcephaly Carbohydrate Metabolism, Inborn Errors Anxiety Disorders Mood Disorders Base Sequence Amino Acid Sequence 1-Deoxynojirimycin Mucopolysaccharidosis VI Phosphotransferases (Alcohol Group Acceptor)Disease Models, Animal Wolman Disease Ichthyosis Sulfatases N-Acetylgalactosamine-4-Sulfatase Fibroblasts Lipid Metabolism, Inborn Errors Acid Ceramidase Hypotrichosis Niemann-Pick Disease, Type A Genotype Codon, Nonsense Brain Sulfoglycosphingolipids Exons Imino Sugars alpha-N-Acetylgalactosaminidase Dried Blood Spot Testing Ichthyosiform Erythroderma, Congenital Membrane Proteins Metal Metabolism, Inborn Errors Intellectual Disability Alleles

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