*  Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders - Full Text View - ClinicalTrials.gov
... glycoprotein metabolic disorder, sphingolipidoses or inherited leukodystrophy, peroxisomal disorder or other inherited diseases ... Sphingolipidoses. Mucopolysaccharidosis VI. Peroxisomal Disorders. Mucopolysaccharidosis VII. Fucosidosis. ... Genetic Diseases, Inborn. Lysosomal Storage Diseases. Mucinoses. Connective Tissue Diseases. Mental Retardation, X-Linked. ... MedlinePlus related topics: Metabolic Disorders Genetic and Rare Diseases Information Center resources: X-linked ...
  https://clinicaltrials.gov/ct2/show/NCT01043640?recr=Open&cond=%22Adrenoleukodystrophy%22&rank=10
*  Lipid storage disorder - Wikipedia
Other lipid storage disorders that are generally not classified as sphingolipidoses include fucosidosis, Schindler disease and ... Disorders that store this intracellular material are part of the lysosomal storage diseases family of disorders. Many lipid ... A lipid storage disorder (or lipidosis) can be any one of a group of inherited metabolic disorders in which harmful amounts of ... Xanthomatosis Niemann-Pick disease "Lipid Storage Diseases Fact Sheet". National Institute of Neurological Disorders and Stroke ...
  https://en.wikipedia.org/wiki/Lipid_storage_disorder
*  Hereditary DiseasesЧCauses Cures and Problems.
2. Sphingolipidoses 2.1. General Description The are now ten distinct disorders of lipid metabolism for which the etiology is ... Fucosidosis A discussion of lipid storage diseases should include some recent observations on a small group of patients with a ... The principal clinical manifestations of these diseases are summarized in Table 1. The hallmark of each of these disorders is ... 12 (1973) / N o . 1 Inborn errors of metabolism are directly involved in more than 100 human diseases. These disorders include ...
  https://www.docme.ru/doc/1946612/hereditary-diseaseschcauses--cures--and-problems
*  Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell...
Connective Tissue Diseases. Metabolic Diseases. Sphingolipidoses. Lysosomal Storage Diseases, Nervous System. Brain Diseases, ... fucosidosis. genetic diseases and dysmorphic syndromes. globoid cell leukodystrophy. inborn errors of metabolism. mannosidosis ... Fucosidosis. Mucolipidoses. Carbohydrate Metabolism, Inborn Errors. Metabolism, Inborn Errors. Genetic Diseases, Inborn. ... Fucosidosis Niemann-Pick Disease Type C1 Peroxisomal Biogenesis Disorders Hypoadrenalism ...
  https://clinicaltrials.gov/ct2/show/NCT00005900?cond=%22Communication+Disorders%22&rank=7
*  Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism - Full Text View - ClinicalTrials.gov
Brain Diseases. Central Nervous System Diseases. Nervous System Diseases. Neurocognitive Disorders. Mental Disorders. ... Sphingolipidoses. Mucopolysaccharidosis VII. Fucosidosis. Aspartylglucosaminuria. Niemann-Pick Disease, Type B. Disease. ... Sphingolipidoses. Recessive Leukodystrophies- GLD, Krabbe disease, MLD. Peroxisomal Disorders. Wolman syndrome. Niemann-Pick B ... Hurler's Syndrome Maroteaux-Lamy Syndrome Sly Syndrome Alpha Mannosidosis Fucosidosis Aspartylglucosaminuria Sphingolipidoses ...
  https://clinicaltrials.gov/ct2/show/NCT00668564?cond=%22mucopolysaccharidosis+type+VI%22&rank=18
*  List of MeSH codes (C18) - Wikipedia
... lysosomal storage diseases, nervous system MeSH C18.452.100.100.435.295 --- fucosidosis MeSH C18.452.100.100.435.340 --- ... fetal nutrition disorders MeSH C18.654.521.750 --- starvation MeSH C18.654.726.500 --- obesity MeSH C18.654.726.500.695 --- ... sphingolipidoses MeSH C18.452.100.100.435.825.200 --- fabry disease MeSH C18.452.100.100.435.825.300 --- gangliosidoses MeSH ... lysosomal storage diseases, nervous system MeSH C18.452.648.151.435.295 --- fucosidosis MeSH C18.452.648.151.435.340 --- ...
  https://en.wikipedia.org/wiki/List_of_MeSH_codes_(C18)
*  List of MeSH codes (C16) - Wikipedia
... lysosomal storage diseases, nervous system MeSH C16.320.565.150.435.295 --- fucosidosis MeSH C16.320.565.150.435.340 --- ... sex chromosome disorders MeSH C16.131.260.800.240 --- ectodermal dysplasia MeSH C16.131.260.800.240.350 --- focal dermal ... sphingolipidoses MeSH C16.320.565.150.435.825.200 --- fabry disease MeSH C16.320.565.150.435.825.300 --- gangliosidoses MeSH ... lysosomal storage diseases, nervous system MeSH C16.320.565.580.554.295 --- fucosidosis MeSH C16.320.565.580.554.340 --- ...
  https://en.wikipedia.org/wiki/List_of_MeSH_codes_(C16)
*  Morquio syndrome C
Fucosidosis; Aspartylglucosaminuria; Glycoprotein Metabolic Disorders; Sphingolipidoses; Recessive Leukodystrophies; Globoid ... Niemann-Pick Diseases; MPS IV; Gaucher Disease; GAN; GM1 Gangliosidoses; Morquio Disease; S-Adenosylhomocysteine Hydrolase ... Condition Summary: Mucopolysaccharidosis Disorders; Hurler Syndrome; Hunter Syndrome; Maroteaux Lamy Syndrome; Sly Syndrome; ... Peroxisomal Disorders; Adrenoleukodystrophy With Cerebral Involvement; Zellweger Syndrome; Neonatal Adrenoleukodystrophy; ...
  http://diseaseinfosearch.org/Morquio+syndrome+C/4878
*  List of conditions treated with hematopoietic stem cell transplantation - Wikipedia
Environmentally-induced diseases Radiation poisoning Viral diseases HTLV HIV Lysosomal storage disorders Lipidoses (disorders ... Fucosidosis Aspartylglucosaminuria Alpha-mannosidosis Other Wolman disease (acid lipase deficiency) Immunodeficiencies T-cell ... Sphingolipidoses Niemann-Pick disease Gaucher disease Leukodystrophies Adrenoleukodystrophy Metachromatic leukodystrophy Krabbe ... Wiskott-Aldrich syndrome Phagocyte disorders Kostmann syndrome Shwachman-Diamond syndrome Immune dysregulation diseases ...
  https://en.wikipedia.org/wiki/List_of_conditions_treated_with_hematopoietic_stem_cell_transplantation
*  Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell...
sphingolipidoses. Additional relevant MeSH terms: Gaucher Disease. Pick Disease of the Brain. Niemann-Pick Diseases. Niemann- ... oncologic disorders. rare disease. adrenoleukodystrophy. fucosidosis. inborn errors of metabolism. mannosidosis. metachromatic ... Brain Diseases, Metabolic. Brain Diseases. Central Nervous System Diseases. Nervous System Diseases. Lipid Metabolism Disorders ... Peroxisomal Disorders. Adrenal Gland Diseases. Endocrine System Diseases. Neurocognitive Disorders. Mental Disorders. Speech ...
  https://clinicaltrials.gov/ct2/show/NCT00005900?term=Krabbe+Disease&rank=11
*  Conference Summary | SpringerLink
Symposium on the Sphingolipidoses has a secure and audacious tone-a reasonable reflection of the state of the art in basic ... Current Trends in Sphingolipidoses and Allied Disorders pp 585-589 , Cite as ... The prototypic lipidoses (Tay-Sachs, Gaucher, Niemann-Pick diseases) no longer dominated the agenda. More recently-described ... syndromes, such as fucosidosis and mannosidosis, captured major attention, and there was a comfortable acknowledgement that ...
  https://link.springer.com/chapter/10.1007/978-1-4684-7735-1_38
*  List of MeSH codes (C10) - Wikipedia
... auditory diseases, central MeSH C10.228.140.068.094 --- auditory perceptual disorders MeSH C10.228.140.068.432 --- hearing loss ... lysosomal storage diseases, nervous system MeSH C10.228.140.163.100.435.295 --- fucosidosis MeSH C10.228.140.163.100.435.340 ... sphingolipidoses MeSH C10.228.140.163.100.435.825.200 --- fabry disease MeSH C10.228.140.163.100.435.825.300 --- gangliosidoses ... headache disorders MeSH C10.228.140.546.399 --- headache disorders, primary MeSH C10.228.140.546.399.750 --- migraine disorders ...
  https://en.wikipedia.org/wiki/List_of_MeSH_codes_(C10)
*  Lysosomal Storage Disease: Overview, Classification of Lysosomal Storage Diseases, Glycogen Storage Disease Type II
Lysosomal storage diseases describe a heterogeneous group of dozens of rare inherited disorders characterized by the ... Lysosomal storage diseases are generally classified by the accumulated substrate and include the sphingolipidoses, ... Alpha-fucosidosis: Clinical features include progressive neuromotor deterioration, seizures (including myoclonic seizures), ... Sphingolipidoses. The sphingolipidoses are as follows:. * Niemann-Pick disease type A (sphingomyelinase deficiency) and Niemann ...
  https://emedicine.medscape.com/article/1182830-overview
*  Lysosomal storage disease - Wikipedia
... lipid storage disorders, mainly sphingolipidoses (including Gaucher's and Niemann-Pick diseases (E75.0-E75.1) gangliosidosis ( ... disease Oligosaccharide Alpha-mannosidosis Beta-mannosidosis Aspartylglucosaminuria Fucosidosis Lysosomal transport diseases ... Like other genetic disorders, individuals inherit lysosomal storage diseases from their parents. Although each disorder results ... Lysosomal storage diseases (LSDs; /ˌlaɪsəˈsoʊməl/) are a group of about 50 rare inherited metabolic disorders that result from ...
  https://en.wikipedia.org/wiki/Lysosomal_storage_disease
*  Inborn Errors of Complex Carbohydrate Catabolism | Springer for Research & Development
Sphingolipidoses and Allied Disorders ( B. W. Volk and S. M. Aronson, eds.), pp. 195-210, Plenum Press, New York.CrossRefGoogle ... Hannun, Y. A., and Bell, R. A., 1987, Lysoglycosphingolipids in lipid storage diseases, Science 235: 670-674.PubMedCrossRef ... Durand, P., Borrone, C., and Della Cella, G., 1969, Fucosidosis, J. Pediatr. 75: 665-674.CrossRefGoogle Scholar ... Pullarkat, R. K., 1987, Dolichols and phosphodolichols in aging and in neurological disorders, Chem. Scr. 27: 85-88.Google ...
  https://rd.springer.com/chapter/10.1007/978-1-4757-5955-6_15
*  Catabolism of Sialyl Compounds in Nature | SpringerLink
van Hoof, F., 1973, Fucosidosis, in: Lysosomes and Storage Diseases (H. G. Hers and F. van Hoof, eds.), pp. 277-290, Academic ... Öckerman, P. A., 1967, A generalized storage disorder resembling Hurler's syndrome, Lancet 11: 239-241.Google Scholar ... Tanaka, H., and Suzuki, K., 1975, Lactosylceramide β-galactosidase in human sphingolipidoses: Evidence for two genetically ... Durand, P., Borrone, C., and Delia Cella, G., 1969, Fucosidosis. J. Pediat. 75: 665-674.PubMedGoogle Scholar ...
  https://link.springer.com/chapter/10.1007/978-1-4684-2226-9_5
*  Metachromatic leukodystrophy
Brain Diseases, Metabolic, Inborn; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System ... Metachromatic leukodystrophy is a rare disorder with great clinical variability. We report the first case of triplets with the ... Fucosidosis; Batten Disease; Severe Aplastic Anemia; Diamond-Blackfan Anemia; Amegakaryocytic Thrombocytopenia; Myelodysplastic ... There are currently no disease-specific therapeutic approaches for these diseases. In this review we use metachromatic ...
  http://diseaseinfosearch.org/Metachromatic+leukodystrophy/4691
*  Pathology
Diseases of myoneural junction. and muscle. Myasthenia gravis - Primary disorders of muscles (Muscular dystrophy, Myotonic ... Sphingolipidoses/Gangliosidoses: GM2 gangliosidoses (Sandhoff disease, Tay-Sachs disease) - GM1 gangliosidoses - Mucolipidosis ... Mucolipidosis - I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha-mannosidosis - ... Oppositional defiant disorder · Separation anxiety disorder · Selective mutism · Reactive attachment disorder · Tic disorder · ...
  http://www.bionity.com/en/encyclopedia/Pathology.html
*  D-Bifunctional Protein Deficiency
Fucosidosis; Aspartylglucosaminuria; Glycoprotein Metabolic Disorders; Sphingolipidoses; Recessive Leukodystrophies; Globoid ... Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI. ... Global Foundation for Peroxisomal Disorders The Global Foundation for Peroxisomal Disorders (GFPD) was founded in 2010 by ... Global Foundation for Peroxisomal Disorders The Global Foundation for Peroxisomal Disorders (GFPD) was founded in 2010 by ...
  http://www.diseaseinfosearch.org/result/2093
*  US20110142818A1 - Combination enzyme replacement and small molecule therapy for treatment of lysosomal storage diseases ...
... and small molecule therapy for the treatment of lysosomal storage diseases. ... Inherited disorders of lysosomal metabolism. Fallet et al. 1992. Enzyme augmentation in moderate to life-threatening Gaucher ... Acta 1182, 245-9 (Fucosidosis); Takahashi et al., 1992, J. Biol. Chem. 267, 12552-8 (Niemann-Pick); Beutler et al., 1996, Proc ... Sphingolipidoses. Gaucher. Glucocerebroside. Glucocerebrosidase. Niemann-Pick. Sphingomyelin. Sphingomyelinase. Farber. ...
  https://patents.google.com/patent/US20110142818A1/en
*  Zellweger syndrome
Fucosidosis; Aspartylglucosaminuria; Glycoprotein Metabolic Disorders; Sphingolipidoses; Recessive Leukodystrophies; Globoid ... Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI. ... Global Foundation for Peroxisomal Disorders The Global Foundation for Peroxisomal Disorders (GFPD) was founded in 2010 by ... Global Foundation for Peroxisomal Disorders The Global Foundation for Peroxisomal Disorders (GFPD) was founded in 2010 by ...
  http://www.diseaseinfosearch.org/result/7597
*  Stem Cell Transplant for Inborn Errors of Metabolism - Full Text View - ClinicalTrials.gov
Fucosidosis. Sphingolipidoses. Lysosomal Storage Diseases, Nervous System. Brain Diseases, Metabolic, Inborn. Brain Diseases, ... Peroxisomal Biogenesis Disorders Hypoadrenalism ... Brain Diseases. Central Nervous System Diseases. Nervous System ... Genetic Diseases, Inborn. Lipidoses. Lipid Metabolism, Inborn Errors. Lysosomal Storage Diseases. Metabolic Diseases. ... Niemann-Pick Diseases. Niemann-Pick Disease, Type A. Niemann-Pick Disease, Type C. Gangliosidoses. Tay-Sachs Disease. Neuronal ...
  https://clinicaltrials.gov/ct2/show/NCT00176904?cond=%22x-linked+adrenoleukodystrophy%22&rank=13