ZIB

Digitale Medien

Diagnosis of Pompe's disease using leukocyte preparations. Kinetic and immunological studies of 1,4-α-glucosidase in human fetal and adult tissues and cultured cells

Shin, Y.S. ; Endres, W. ; Unterreithmeier, J. ; [weitere]

Amsterdam : Elsevier

Clinica Chimica Acta 148 (1985), S. 9-19

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ISSN: 0009-8981

Schlagwort(e): Acid α-glucosidase ; Antibodies for acid glucosidase ; Leukocytes ; Pompe's disease

Quelle: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002

Thema: Medizin

Materialart: Digitale Medien

URL: http://linkinghub.elsevier.com/retrieve/pii/0009-8981(85)90295-5

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Digitale Medien

Wolman's disease: Clinical, biochemical and ultrastructural studies in an unusual case without striking adrenal calcification (1980)

Schaub, J. ; Janka, G. E. ; Christomanou, H. ; [weitere]

Springer

European journal of pediatrics 135 (1980), S. 45-53

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ISSN: 1432-1076

Schlagwort(e): Wolman's disease ; Storage ; Cholesterylester ; Triglycerides ; Acid lipase ; Adrenal calcification ; Dyserythropoietic changes ; Foam cells

Quelle: Springer Online Journal Archives 1860-2000

Thema: Medizin

Notizen: Abstract A case of Wolman's disease is described in a German infant who died at the age of 4 months. Hepatosplenomegaly, abdominal distention, gastrointestinal symptoms, dyserythropoietic changes in the bone marrow, but not adrenal calcification on X-ray were present. Stored lipid material could be demonstrated in liver, spleen, intestine, adrenals, thymus, kidneys, blood cells, but not in the central nervous system. Cholesterylesters and triglycerides were markedly increased in liver and spleen. Lysosomal acid lipase was found to be decreased in leucocytes and liver to less than 10% of normal, when measured with synthetic and natural substrates.

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1007/BF00445892

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Digitale Medien

Glycogen storage disease type Ib (1983)

Schaub, J. ; Heyne, K.

Springer

European journal of pediatrics 140 (1983), S. 283-288

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ISSN: 1432-1076

Schlagwort(e): Glycogen storage disease

Quelle: Springer Online Journal Archives 1860-2000

Thema: Medizin

Notizen: Abstract Glycogen storage disease type Ib has all the clinical manifestations of glycogen storage disease type Ia such as hepatomegaly, growth retardation, bleeding tendency, hypoglycemia, hyperlactacidemia, hyperuricemia, hyperlipidemia, impaired platelet function plus neutropenia. The overall glucose-6-phosphatase activity in disrupted microsomes from liver is normal whereas glucose-6-phosphate translocase, the first enzyme in the glucose-6-phosphate transport system is absent. There is no glucose-6-phosphatase activity in vivo. Recent results show that in granulocytes the glucose-6-phosphate-dependent hexosemonophosphate-shunt is impaired.

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1007/BF00442664

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Digitale Medien

Glycogen storage disease: recommendations for treatment (1988)

Fernandes, J. ; Leonard, J. V. ; Moses, S. W. ; [weitere]

Springer

European journal of pediatrics 147 (1988), S. 226-228

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ISSN: 1432-1076

Schlagwort(e): Glycogen storage disease ; Glucose-6-phosphatase ; Glucose-6-phosphate translocase ; Debranching enzyme ; Phosphorylase-6-kinase

Quelle: Springer Online Journal Archives 1860-2000

Thema: Medizin

Notizen: Abstract A workshop was held on “Aspects of treatment of patients with glycogen storage disease” within the framework of the Concerted Action “Inborn errors of metabolism” of the European Communities. Consensus was reached on the main issues of treatment of patients with deficiency of glucose-6-phosphatase, glucose-6-phosphate translocase, debranching enzyme, liver phosphorylase and phosphorylase-b-kinase. The resulting recommendations are reported.

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1007/BF00442683

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Digitale Medien

Fanconi-Bickel syndrome – the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature (1998)

Santer, R. ; Schneppenheim, R. ; Suter, D. ; [weitere]

Springer

European journal of pediatrics 157 (1998), S. 783-797

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ISSN: 1432-1076

Schlagwort(e): Key words Fanconi-Bickel syndrome ; Facilitative glucose transport ; Glut2 ; Glycogen storage disease

Quelle: Springer Online Journal Archives 1860-2000

Thema: Medizin

Notizen: Abstract Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder of carbohydrate metabolism recently demonstrated to be caused by mutations in Glut2, the gene for the glucose transporter protein 2 expressed in liver, pancreas, intestine and kidney. The disease was first described in a 3-year-old Swiss boy in 1949. Here we report a follow up of this original patient over more than 50 years and show that the typical clinical and laboratory findings of FBS (hepatomegaly secondary to glycogen accumulation, glucose and galactose intolerance, fasting hypoglycaemia, a characteristic proximal tubular nephropathy and severe short stature) persist into adulthood. We further summarize the historical observations that eventually led to the identification of the basic defect of FBS and give an overview of the 82 cases from 70 families in the published literature and from personal communications. Conclusion Although with the first description of a congenital defect of facilitative glucose transport the main steps in the pathophysiology of Fanconi-Bickel syndrome have been elucidated, numerous pathophysiological mechanisms are far from clear and thus encourage the ongoing study of patients with this disorder.

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1007/s004310050937

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