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Your search keyword '"Mucopolysaccharidoses genetics"' showing total 107 results
Start Over Descriptor "Mucopolysaccharidoses genetics" Publication Year Range More than 50 years ago
107 results on '"Mucopolysaccharidoses genetics"'

2. Mucolipidosis III.

Author

Robinow M

Subjects
Adolescent, Adult, Aortic Valve Stenosis complications, Bone Diseases, Developmental diagnosis, Cells, Cultured, Diagnosis, Differential, Dwarfism complications, Fibroblasts enzymology, Glycosaminoglycans analysis, Glycosaminoglycans urine, Humans, Joints abnormalities, Lipidoses diagnosis, Male, Mucopolysaccharidoses genetics, Sphingolipidoses genetics, Mucopolysaccharidoses diagnosis, Sphingolipidoses diagnosis
Published
1974

4. Ultrastructural and histochemical studies of a newly recognized form of systemic mucopolysaccharidosis. (Maroteaux-Lamy syndrome, mild phenotype).

Author

Quigley HA and Kenyon KR

Subjects
Adult, Basement Membrane pathology, Biopsy, Chondroitin urine, Conjunctiva pathology, Connective Tissue Cells, Cornea pathology, Corneal Opacity urine, Cytoplasm, Epithelial Cells, Fibroblasts, Glycosaminoglycans urine, Histiocytes, Histocytochemistry, Humans, Inclusion Bodies, Joint Diseases pathology, Male, Microscopy, Electron, Mucopolysaccharidoses genetics, Mucopolysaccharidoses urine, Phenotype, Plasma Cells, Retinitis Pigmentosa urine, Schwann Cells, Syndrome, Chondroitin metabolism, Corneal Opacity pathology, Mucopolysaccharidoses pathology, Retinitis Pigmentosa pathology
Published
1974
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5. Infusion of normal HL-A identical leukocytes in Sanfilippo disease type B. Estimate of infused cell survival by assays of alpha-N-acetylglucosaminidase activity and cytogenetic techniques: effect on glycosaminoglycan excretion in the urine.

Author

Moser HW, O'Brien JS, Atkins L, Fuller TC, Kliman A, Janowska S, Russell PS, Bartsocas CS, Cosimi B, and Dulaney JT

Subjects
Cell Survival, Chemical Phenomena, Chemistry, Child, Chromosome Aberrations, Chromosome Disorders, Chromosomes, Human, 1-3, Cyclophosphamide therapeutic use, Fucose, Glycoside Hydrolases analysis, Hexosaminidases analysis, Histocompatibility Testing, Humans, Intellectual Disability genetics, Intellectual Disability immunology, Intellectual Disability urine, Leukocytes enzymology, Lymphocytes immunology, Male, Mucopolysaccharidoses genetics, Mucopolysaccharidoses immunology, Mucopolysaccharidoses urine, Nitrophenols, Syndrome, Transplantation, Homologous, Glycosaminoglycans urine, HLA Antigens, Histocompatibility Antigens, Intellectual Disability therapy, Leukocyte Transfusion, Mucopolysaccharidoses therapy
Published
1974
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7. [Diseases caused by genetic defects in lysosomal muco-polysaccharide-catabolism. Mucopolysaccharidoses].

Author

Passarge E, Wendel U, Wöhler W, and Rüdiger HW

Subjects
Amniotic Fluid analysis, Bone and Bones abnormalities, Carbohydrate Metabolism, Inborn Errors physiopathology, Chromosome Aberrations, Chromosome Disorders, Craniofacial Dysostosis physiopathology, Dwarfism physiopathology, Female, Glycosaminoglycans metabolism, Glycosaminoglycans urine, Humans, Hypertrichosis physiopathology, Intellectual Disability physiopathology, Joint Diseases physiopathology, Metabolism, Inborn Errors physiopathology, Mucopolysaccharidoses diagnosis, Mucopolysaccharidoses epidemiology, Mucopolysaccharidoses etiology, Mucopolysaccharidoses physiopathology, Mucopolysaccharidoses therapy, Mucopolysaccharidosis IV physiopathology, Pedigree, Pregnancy, Retinitis Pigmentosa physiopathology, Sex Chromosome Aberrations, Lysosomes enzymology, Mucopolysaccharidoses genetics
Published
1974
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8. Hurler/Scheie genetic compound (mucopolysaccharidosis IH/IS) in Japanese brothers.

Author

Kajii T, Matsuda I, Osawa T, Katsunuma H, and Ichida T

Subjects
Abnormalities, Multiple, Adolescent, Adult, Biopsy, Corneal Opacity metabolism, Dwarfism diagnostic imaging, Dwarfism metabolism, Fibroblasts, Glycosaminoglycans urine, Humans, Inclusion Bodies, Japan, Male, Mucopolysaccharidoses diagnostic imaging, Mucopolysaccharidoses metabolism, Radiography, Skin pathology, Syndrome, Corneal Opacity genetics, Dwarfism genetics, Mucopolysaccharidoses genetics
Published
1974
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9. Mucopolysaccharidoses and mucolipidoses.

Author

Van Hoof F

Subjects
Cells, Cultured, Child, Preschool, Chondroitin Sulfates urine, Female, Fucose metabolism, Gangliosidoses enzymology, Gangliosidoses genetics, Gangliosidoses pathology, Genetic Carrier Screening, Hexosyltransferases metabolism, Humans, Iduronidase deficiency, Liver ultrastructure, Lysosomes enzymology, Lysosomes ultrastructure, Mannose metabolism, Mucolipidoses enzymology, Mucolipidoses genetics, Mucopolysaccharidoses enzymology, Mucopolysaccharidoses genetics, Mucopolysaccharidosis I enzymology, Mucopolysaccharidosis I genetics, Mucopolysaccharidosis I pathology, Mucopolysaccharidosis II, Mucopolysaccharidosis III enzymology, Mucopolysaccharidosis III genetics, Mucopolysaccharidosis III pathology, Mucopolysaccharidosis IV enzymology, Mucopolysaccharidosis IV genetics, Mucopolysaccharidosis IV pathology, Mucopolysaccharidosis VI enzymology, Mucopolysaccharidosis VI genetics, Mucopolysaccharidosis VI pathology, beta-Galactosidase metabolism, Mucolipidoses pathology, Mucopolysaccharidoses pathology
Published
1974

10. [Human genetic counseling. II. Practical view points in counseling].

Author

Körner H and Grauel EL

Subjects
Abortion, Habitual prevention & control, Adult, Chromosome Aberrations, Cleft Lip genetics, Cleft Palate genetics, Congenital Abnormalities genetics, Down Syndrome genetics, Environment, Family Planning Services, Female, Humans, Maternal Age, Mucopolysaccharidoses genetics, Mucopolysaccharidosis II genetics, Muscular Dystrophies genetics, Phenotype, Phenylketonurias genetics, Pregnancy, Retinitis Pigmentosa genetics, Genetic Counseling
Published
1974

11. Aspartylglycosaminuria: a gargoyle-like syndrome with autosomal recessive inheritance.

Author

Autio S, Palo J, and Perheentupa J

Subjects
Adolescent, Adult, Aspartic Acid analogs & derivatives, Aspartic Acid urine, Child, Finland, Humans, Mucopolysaccharidoses genetics, Pedigree, Syndrome, Aminoglycosides urine
Abstract

Aspartylglycosaminuria is an autosomal recessive disorder of glycoprotein catabolism, characterized by presence of aspartyglycosamine in the urine, progressive mental retardation, coarse face, impaired speech and motor functions, and signs of involvement of connective tissue and skeleton. In infancy, clinical symptoms are mild or absent. Vacuolized lymphocytes are often found in the blood and bone marrow. The disease appears unusually common in Finland.

Published
1974

12. Case report. Case 2 (mucolipidosis III).

Author

Feingold M, Bull MJ, and Darling DB

Subjects
Bone and Bones abnormalities, Child, Diagnosis, Differential, Female, Humans, Mucopolysaccharidoses diagnosis, Mucopolysaccharidoses diagnostic imaging, Radiography, Mucopolysaccharidoses genetics
Published
1974

13. Genetically expressed abnormalities in the fetus.

Author

Gardner LI

Subjects
Adrenal Insufficiency genetics, Amino Acid Metabolism, Inborn Errors genetics, Amino Acids, Sulfur metabolism, Ammonia blood, Anemia, Sickle Cell genetics, Anencephaly genetics, Carbohydrate Metabolism, Inborn Errors genetics, Fabry Disease genetics, Female, Fetus cytology, Gangliosides metabolism, Gaucher Disease genetics, Humans, Karyotyping, Lipid Metabolism, Inborn Errors genetics, Lipidoses genetics, Lysine blood, Metabolism, Inborn Errors genetics, Mucopolysaccharidoses genetics, Polyploidy, Pregnancy, Propionates metabolism, Sphingolipidoses genetics, Turner Syndrome genetics, Vitamin B 12 metabolism, Fetal Diseases genetics
Published
1974
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15. [A comparative clinical, radiologic, biochemical and genetic study of Sanfilippo's disease, type A and B. Six case reports].

Author

Farriaux JP, Dhondt JL, Blanckaert D, and Fontaine G

Subjects
Adolescent, Child, Female, Femur diagnostic imaging, Hexosaminidases blood, Humans, Kidney ultrastructure, Liver ultrastructure, Male, Pedigree, Radiography, Skull diagnostic imaging, Spine diagnostic imaging, Sulfatases blood, Syndrome, Intellectual Disability diagnostic imaging, Intellectual Disability genetics, Intellectual Disability metabolism, Intellectual Disability pathology, Mucopolysaccharidoses diagnostic imaging, Mucopolysaccharidoses genetics, Mucopolysaccharidoses metabolism, Mucopolysaccharidoses pathology
Published
1974

16. Fucosidosis: clinical, biochemical, immunologic, and genetic studies in two new cases.

Author

Borrone C, Gatti R, Trias X, and Durand P

Subjects
Adolescent, Blood Group Antigens, Child, Consanguinity, Female, Glycolipids analysis, Glycoside Hydrolases analysis, Glycoside Hydrolases biosynthesis, Glycoside Hydrolases physiology, Humans, Immune Sera, Male, Mucopolysaccharidoses diagnosis, Mucopolysaccharidoses diagnostic imaging, Mucopolysaccharidoses enzymology, Mucopolysaccharidoses genetics, Mucopolysaccharidoses immunology, Mucopolysaccharidoses metabolism, Radiography, Saliva analysis, Spine diagnostic imaging, Syndrome, Fucose metabolism
Published
1974
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17. Prenatal diagnosis: detailed chromosomal analysis in 500 cases.

Author

Atkins L, Milunsky A, and Shahood JM

Subjects
Abortion, Therapeutic, Age Factors, Chromosomes, Human, 16-18, Cleft Lip genetics, Craniosynostoses genetics, Diploidy, Ectromelia genetics, Female, Gestational Age, Humans, Karyotyping, Lipidoses genetics, Mosaicism, Mucopolysaccharidoses genetics, Polyploidy, Pregnancy, Retinitis Pigmentosa genetics, Rubella genetics, Syndrome, Trisomy, Amniocentesis, Amniotic Fluid cytology, Chromosome Aberrations genetics, Chromosome Disorders
Published
1974
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18. [2 further cases of Dyggve-Melchior-Clausen syndrome with hypoplasia of the odontoid apophysis and spinal compression].

Author

Naffah J and Taleb N

Subjects
Abnormalities, Multiple genetics, Adolescent, Female, Gait, Humans, Hyaluronic Acid, Ilium diagnostic imaging, Intellectual Disability, Male, Mucopolysaccharidoses diagnostic imaging, Mucopolysaccharidoses genetics, Radiography, Syndrome, Axis, Cervical Vertebra abnormalities, Mucopolysaccharidoses diagnosis, Spinal Cord Compression etiology
Published
1974

19. Genetic heterogeneity in multiple lysosomal hydrolase deficiency.

Author

Glaser JH, McAlister WH, and Sly WS

Subjects
Cells, Cultured, Cervical Vertebrae diagnostic imaging, Child, Fibroblasts enzymology, Fibroblasts metabolism, Glucuronidase analysis, Glycosaminoglycans analysis, Hand Deformities, Acquired diagnostic imaging, Humans, Hydrolases analysis, Hydrolases blood, Leukocytes, Male, Mucopolysaccharidoses diagnostic imaging, Mucopolysaccharidoses enzymology, Mucopolysaccharidoses pathology, Pelvic Bones diagnostic imaging, Radiography, Sulfur Radioisotopes, Lysosomes enzymology, Mucopolysaccharidoses genetics
Published
1974
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20. [Mucosulfatidosis. Study of 3 familial cases].

Author

Couchot J, Pluot M, Schmauch MA, Pennaforte F, and Fandre M

Subjects
Bone and Bones diagnostic imaging, Brain pathology, Child, Preschool, Female, Humans, Infant, Newborn, Karyotyping, Kidney pathology, Leukodystrophy, Metachromatic complications, Leukodystrophy, Metachromatic diagnosis, Leukodystrophy, Metachromatic enzymology, Leukodystrophy, Metachromatic pathology, Liver pathology, Male, Microscopy, Electron, Mucopolysaccharidoses complications, Mucopolysaccharidoses diagnosis, Mucopolysaccharidoses enzymology, Mucopolysaccharidoses pathology, Muscles pathology, Nerve Tissue pathology, Radiography, Leukodystrophy, Metachromatic genetics, Mucopolysaccharidoses genetics
Published
1974

21. Sanfilippo A disease in the fetus.

Author

Harper PS, Laurence KM, Parkes A, Wusteman FS, Kresse H, von Figura K, Ferguson-Smith MA, Duncan DM, Logan RW, Hall F, and Whiteman P

Subjects
Amniocentesis, Amniotic Fluid analysis, Cells, Cultured, Female, Fetus pathology, Fibroblasts, Glycoside Hydrolases analysis, Heparitin Sulfate analysis, Humans, Inclusion Bodies, Liver analysis, Lyases analysis, Microscopy, Electron, Mucopolysaccharidoses enzymology, Mucopolysaccharidoses genetics, Pregnancy, Sulfur Radioisotopes, Syndrome, Fetal Diseases diagnosis, Intellectual Disability diagnosis, Mucopolysaccharidoses diagnosis, Prenatal Diagnosis
Published
1974
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22. Discussion of classification.

Author

McKusick VA

Subjects
Humans, Mucopolysaccharidoses genetics, Terminology as Topic, Mucopolysaccharidoses classification
Published
1974

23. [Sanfilippo's disease: clinico-genetic and biological study of 2 families].

Author

Carlomagno S, Federico A, Vitiello F, Pinto L, Vertucci P, Marolda M, Balbi R, and Guazzi GC

Subjects
Child, Child, Preschool, Female, Hand diagnostic imaging, Humans, Male, Mucopolysaccharidoses diagnostic imaging, Pedigree, Radiography, Syndrome, Intellectual Disability genetics, Mucopolysaccharidoses genetics
Published
1974

24. [Histochemical examination of the cornea in a patient with Scheie's disease (presentation of a new family)].

Author

Pinto L, Menna F, Balbi R, Cecio A, Federico A, Carlomagno S, Vitello P, and Guazzi GC

Subjects
Adult, Epithelial Cells, Hernia, Inguinal complications, Histocytochemistry, Humans, Male, Mucopolysaccharidoses complications, Myocardial Infarction complications, Pedigree, Syndrome, Corneal Opacity pathology, Mucopolysaccharidoses genetics, Retinitis Pigmentosa pathology
Published
1974

25. Mucolipidosis. 3. New studies.

Author

Robinow M and Soukup SM

Subjects
Acid Phosphatase metabolism, Adult, Cells, Cultured, Fibroblasts enzymology, Glycoside Hydrolases metabolism, Humans, Inclusion Bodies, Lymphocytes ultrastructure, Lysosomes enzymology, Male, Mucopolysaccharidoses enzymology, Sulfatases metabolism, Sulfur Radioisotopes, Mucopolysaccharidoses genetics
Published
1974

26. Beta-glucuronidase deficiency mucopolysaccharidosis.

Author

Sly WS, Brot FE, Glaser J, Stahl PD, Quinton BA, Rimoin DL, and McAlister WH

Subjects
Biopsy, Bone and Bones abnormalities, Cells, Cultured, Child, Preschool, Fibroblasts enzymology, Glucuronidase blood, Glucuronidase metabolism, Glycosaminoglycans urine, Hepatomegaly, Humans, Infant, Intellectual Disability, Leukocytes enzymology, Male, Pneumonia, Skin, Syndrome, Glucuronidase deficiency, Mucopolysaccharidoses diagnosis, Mucopolysaccharidoses genetics, Mucopolysaccharidoses metabolism
Published
1974

27. [Progressive myoclonus epilepsy in two siblings and 5 cases with dyssynergia cerebellaris myoclonica in several generations of a kinship, a clinical and genetic study].

Author

Diebold K, Kastner M, and Penin H

Subjects
Adolescent, Adult, Age Factors, Child, Child, Preschool, Diagnosis, Differential, Epilepsy diagnosis, Epilepsy therapy, Epilepsy, Tonic-Clonic genetics, Female, Genetic Counseling, Humans, Infant, Infant, Newborn, Male, Mucopolysaccharidoses diagnosis, Mucopolysaccharidoses genetics, Myoclonic Cerebellar Dyssynergia diagnosis, Myoclonic Cerebellar Dyssynergia therapy, Myoclonus diagnosis, Myoclonus therapy, Pedigree, Sex Factors, Syndrome, Cerebellar Ataxia genetics, Epilepsy genetics, Myoclonic Cerebellar Dyssynergia genetics, Myoclonus genetics
Published
1974

30. A new mucopolysaccharidosis.

Author

Horton WA and Schimke RN

Subjects
Adolescent, Bone and Bones abnormalities, Carbohydrate Metabolism, Inborn Errors classification, Carbohydrate Metabolism, Inborn Errors urine, Child, Corneal Opacity urine, Female, Humans, Hypertrichosis, Intellectual Disability, Joint Diseases, Male, Mucopolysaccharidoses genetics, Mucopolysaccharidoses urine, Mucopolysaccharidosis IV, Retinitis Pigmentosa, Carbohydrate Metabolism, Inborn Errors genetics, Chondroitin urine, Corneal Opacity genetics, Heparin urine
Published
1970
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31. Correction of celluar metachromasia in cultured fibroblasts in several inherited mucopolysaccharidoses.

Author

Danes BS and Bearn AG

Subjects
Albinism complications, Cell Line, Coloring Agents, Culture Techniques, Female, Hematologic Diseases genetics, Hematologic Diseases metabolism, Heterozygote, Histocytochemistry, Humans, Intellectual Disability metabolism, Leukocytes, Light, Lymphocytes, Mucopolysaccharidoses genetics, Mucopolysaccharidosis IV metabolism, Phenothiazines, Retinitis Pigmentosa genetics, Staining and Labeling, Carbohydrate Metabolism, Inborn Errors metabolism, Fibroblasts metabolism, Glycosaminoglycans metabolism, Mucopolysaccharidoses metabolism, Retinitis Pigmentosa metabolism
Abstract

Cultured fibroblasts from the genetic mucopolysaccharidoses store higher than normal amounts of the polyanionic glycosaminoglycans (mucopolysaccharides); histochemical staining with the cationic dyes toluidine blue O and Alcian blue detects such intracellular accumulation. With these stains as phenotypic markers, correction of the cellular abnormality by fibroblasts derived from different patients and their heterozygous parents has been observed among several genetic types of mucopolysaccharidoses. In this way, syndromes previously considered clinically homogeneous have been separated into distinct groups.

Published
1970
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33. Genetic counselling in lethal X-linked disorders.

Author

Emery AE and Morton R

Subjects
Creatine Kinase blood, Diabetes Insipidus genetics, Female, Genes, Lethal, Hemophilia A genetics, Heterozygote, Humans, Male, Mucopolysaccharidoses genetics, Muscular Dystrophies enzymology, Muscular Dystrophies genetics, Probability, Sex Chromosomes, Counseling, Genetic Diseases, Inborn prevention & control
Published
1968
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34. Clinical neuropathological conference.

Author

Aronson SM and Aronson BE

Subjects
Brain pathology, Cartilage pathology, Child, Preschool, Female, Glycosaminoglycans urine, Humans, Liver pathology, Lung pathology, Mucopolysaccharidoses genetics, Mucopolysaccharidoses pathology, Myocardium pathology, Spleen pathology, Mucopolysaccharidoses diagnosis
Published
1969

35. Serum acid hydrolases in the mucopolysaccharidoses.

Author

Cunningham WL and Ramage PR

Subjects
Child, Glucuronidase blood, Humans, Hyaluronoglucosaminidase blood, Mucopolysaccharidoses genetics, Mucopolysaccharidosis IV enzymology, Carbohydrate Metabolism, Inborn Errors enzymology, Glycosaminoglycans metabolism, Glycoside Hydrolases blood
Published
1971
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36. Status and prospects of research in hereditary deafness.

Author

Nance WE and McConnell FE

Subjects
Audiometry, Chromosome Aberrations genetics, Chromosome Disorders, Deafness diagnosis, Deafness epidemiology, Deafness etiology, Ear anatomy & histology, Ear physiology, Genes, Dominant, Genes, Recessive, Genetic Counseling, Genetic Linkage, Hearing Tests, Heterozygote, Homozygote, Humans, Mandibulofacial Dysostosis genetics, Mucopolysaccharidoses genetics, Otosclerosis genetics, Pedigree, Rubella complications, Sex Chromosome Aberrations genetics, Speech, Deafness genetics
Published
1973
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37. On lumpers and splitters, or the nosology of genetic disease.

Author

McKusick VA

Subjects
Dwarfism, Ellis-Van Creveld Syndrome genetics, Genetic Diseases, Inborn diagnosis, Genetics, Medical, Genotype, Humans, Inbreeding, Intestinal Diseases genetics, Mucopolysaccharidoses genetics, Peripheral Nervous System Diseases genetics, Peutz-Jeghers Syndrome genetics, Phenotype, Polyps genetics, Retinitis Pigmentosa genetics, Terminology as Topic, Genetic Diseases, Inborn classification
Published
1969
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38. [Mental retardation and hereditary enzymopathy (review)].

Author

D'iachkova AIa and Lebedev BV

Subjects
Ammonia, Carboxy-Lyases metabolism, Child, Child, Preschool, Galactosemias genetics, Growth Disorders, Hartnup Disease genetics, Hepatolenticular Degeneration genetics, Homocystinuria genetics, Humans, Hydro-Lyases metabolism, Infant, Newborn, Intestinal Absorption, Lipidoses genetics, Male, Maple Syrup Urine Disease genetics, Mucopolysaccharidoses genetics, Phenylalanine Hydroxylase metabolism, Phenylketonurias genetics, Renal Aminoacidurias genetics, Eye Diseases genetics, Intellectual Disability genetics, Kidney Diseases genetics, L-Serine Dehydratase metabolism, Ligases metabolism, Lyases metabolism, Metabolism, Inborn Errors genetics, Mixed Function Oxygenases metabolism, Nucleotidyltransferases metabolism
Published
1971

41. Macular cherry-red spot, corneal clouding, and beta-galactosidase deficiency. Clinical, biochemical, and electron microscopic study of a new autosomal recessive storage disease.

Author

Goldberg MF, Cotlier E, Fichenscher LG, Kenyon K, Enat R, and Borowsky SA

Subjects
Adult, Child, Consanguinity, Dwarfism enzymology, Dwarfism genetics, Eye Diseases enzymology, Eye Diseases genetics, Female, Glycoside Hydrolases metabolism, Hearing Disorders enzymology, Hearing Disorders genetics, Humans, Intellectual Disability enzymology, Intellectual Disability genetics, Liver enzymology, Male, Metabolism, Inborn Errors enzymology, Microscopy, Electron, Mucopolysaccharidoses enzymology, Mucopolysaccharidoses genetics, Pedigree, Seizures enzymology, Seizures genetics, Skin enzymology, Sulfatases metabolism, Cornea, Eye Manifestations, Galactosidases metabolism, Macula Lutea, Metabolism, Inborn Errors genetics
Published
1971

43. [Mucopolysaccharidoses].

Author

Krzanowska-Dyras M, Kownacka-Klimek E, and Mazurek A

Subjects
Bone and Bones metabolism, Humans, Hypertrichosis metabolism, Intellectual Disability metabolism, Joint Diseases metabolism, Mucopolysaccharidoses genetics, Mucopolysaccharidosis IV metabolism, Retinitis Pigmentosa metabolism, Carbohydrate Metabolism, Inborn Errors, Glycosaminoglycans metabolism
Published
1971

44. L-iduronidase in cultured human fibroblasts and liver.

Author

Matalon R, Cifonelli JA, and Dorfman A

Subjects
Chondroitin, Chromatography, Paper, Culture Techniques, Humans, Lactones, Mucopolysaccharidoses genetics, Sulfuric Acids, Fibroblasts enzymology, Glycoside Hydrolases analysis, Liver enzymology, Uronic Acids
Published
1971
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46. [Mucopolysaccharidoses. IV. Morphological contribution to the knowledge of mucopolysaccharidosis].

Author

Magrini U and Scappaticci S

Subjects
Biopsy, Bone and Bones abnormalities, Humans, Hypertrichosis pathology, Intellectual Disability, Mucopolysaccharidoses genetics, Mucopolysaccharidosis IV pathology, Retinitis Pigmentosa pathology, Bone Diseases pathology, Carbohydrate Metabolism, Inborn Errors pathology, Glycosaminoglycans metabolism, Joint Diseases pathology, Mucopolysaccharidoses pathology
Published
1972

48. [Hereditary diseases connected with defective metabolism of polysaccharides and mixed carbohydrate-containing biopolymers].

Author

Rozenfel'd EL

Subjects
Amniocentesis, Animals, Carbohydrate Metabolism, Inborn Errors diagnosis, Carbohydrate Metabolism, Inborn Errors therapy, Cats, Cattle, Disease Models, Animal, Dogs, Female, Glycogen metabolism, Glycogen Storage Disease genetics, Glycolipids metabolism, Glycoproteins metabolism, Humans, Male, Polysaccharides metabolism, Pregnancy, Prenatal Diagnosis, Rats, Carbohydrate Metabolism, Inborn Errors genetics, Mucopolysaccharidoses genetics
Published
1973

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