Library

feed icon rss

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Due to technical work, the interlibrary loan service wont be available from March 28th until presumably April 3rd.
Export
  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 59 (1981), S. 1053-1059 
    ISSN: 1432-1440
    Keywords: Glycogenosis ; Glycogenosis type V (McArdle) ; Vacuolar myopathy ; Recurrent rhabdomyolysis ; Glycogen storage ; Muscle phosphorylase deficiency ; Glykogenose ; Glykogenose Typ V (McArdle) ; Vacuoläre Myopathie ; Rezidivierende Rhabdomyolyse ; Glykogenspeicherung ; Muskelphosphorylasemangel
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Es wird über die myopathologischen und biochemischen Befunde von sechs Patienten mit Glykogenose Typ V (McArdle) berichtet. Morphologisch findet sich in vier Fällen das typische Substrat einer vacuolären Myopathie mit vorwiegend subsarkolemmaler Glykogenvermehrung. Eine Biopsie zeigt nur sehr diskrete Strukturveränderungen, welche ohne entsprechende biochemische Befunde keine sichere diagnostische Festlegung zuließen. In einer weiteren Biopsie stehen die Zeichen der abgelaufenen Rhabdomyolyse quantitativ ganz im Vordergrund und überlagern die Speichermyopathie. Biochemisch ist in allen Fällen ein erhöhter Glykogengehalt nachweisbar, welcher mehrheitlich zwischen 2,5–4,23% liegt, bzw. nur bei dem klinisch ausgeprägtesten Fall mit abgelaufener Rhabdomyolyse über 5% beträgt. In allen Fällen kann zusätzlich ein Fehlen bzw. eine hochgradige Verminderung der Phosphorylaseaktivität objektiviert werden. Abgesehen von dem besonders schwer verlaufenden Fall ist keine sichere Korrelation zwischen der Quantität der myopathologischen und biochemischen Befunde zu erkennen, was bedeutet, daß bei entsprechendem klinischen Beschwerdebild eine ergänzende biochemische Untersuchung des Muskels durchgeführt werden sollte, selbst wenn morphologisch nur diskrete Veränderungen zu erkennen sind.
    Notes: Summary This report deals with structural and biochemical studies of muscle biopsies from six patients with glycogenosis type V (McArdle). From a morphological point of view in four cases the typical findings of vacuolar myopathy with glycogen storage especially under the sarcolemma can be demonstrated. One biopsy shows only mild structural changes which without additional biochemical analysis could be overlooked. In one case signs of recovery phase after rhabdomyolysis predominate the storage myopathy. Biochemical studies in all cases show an elevated glycogen content (2.5–4.23%). Only the from a clinical point of view most expressive patient with recurrent episodes of rhabdomyolysis exhibits a glycogen storage over 5%. All cases additionally show an absence or highly reduction of phosphorylase activity. Apart from the most expressive clinical course the extent of morphological and biochemical findings is not clearly correlated. Therefore if clinical signs suggest the diagnosis of glycogenosis type V it appears necessary to perform additional biochemical examination of muscle biopsy independent from the degree of morphological anomalies.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 59 (1981), S. 1195-1199 
    ISSN: 1432-1440
    Keywords: Fallbericht ; Pseudohypoparathyreoidismus ; hypocalcämische Myopathie ; Case report ; Pseudohypoparathyroidism ; Hypocalcemic myopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary A patient with the clinical features of pseudohypoparathyreoidism and elevated concentrations of serum CK and LDH, which normalized after successful therapy, is described. Clinical signs of myopathy did not exist. The bioptical material from the m. tibialis anterior was microscopically normal. The biochemical analysis revealed a reduced phosphorylase-a-activity with the total phosphorylase-activity (a and b) being within the normal range. The significance of these findings as well as possible pathogenetic mechanisms are discussed.
    Notes: Zusammenfassung Es wird über einen Fall von Pseudohypoparathyreoidismus berichtet, bei dem gleichzeitig erhöhte CPK- und LDH-Konzentrationen im Serum festgestellt wurden, die sich nach Therapie normalisierten. Klinische Zeichen einer Myopathie bestanden nicht. Das Biopsiematerial vom m. tibialis anterior war mikroskopisch unauffällig. Biochemisch fand sich eine verminderte Phosphorylase-a-Aktivität bei normaler Gesamtphosphorylase-Aktivität (a und b). Die Bedeutung des Befundes und die möglichen pathogenetischen Mechanismen werden diskutiert.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 55 (1977), S. 141-144 
    ISSN: 1432-1440
    Keywords: Oculo-cerebro-renales Syndrom (Lowe) ; Katarakt ; Fetus ; Oculo-cerebro-renal syndrome (Lowe) ; Cataract ; Fetus
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary A high-risk pregnancy for X-linked recessive inherited Lowe's syndrome was terminated due to a male karyotype in the cultured amniotic fluid cells. The eyes of the male fetus showed specific cataracteous changes of the lens. A posterior lenticonus was due to a defect of the lens capsule. The lenses were of normal size. Loss of lens material through a lens capsule defect could account for the small discoid lens usually seen in Lowe's syndrome. Amino acids in amniotic fluid had normal concentrations except lysine and proline which were markedly elevated.
    Notes: Zusammenfassung Bei einer Schwangeren, die bereits einen Jungen mit Lowe-Syndrom hat, wurde eine Amniocentese durchgeführt. Die Schwangerschaft wurde unterbrochen, nachdem sich in den kultivierten Zellen der Amnionflüssigkeit ein männlicher Karyotyp zeigte und damit eine Wahrscheinlichkeit von 50% für die Geburt eines weiteren Kindes mit dieser X-chromosomal rezessiv erblichen Erkrankung bestand. Der männliche Fet bot die für das Lowe-Syndrom charakteristischen Linsentrübungen. Es bestand ein Lenticonus posterior mit Defekt der hinteren Linsenkapsel; die bisher bekannte kleine, discoide Linse des Lowe-Syndroms entsteht somit möglicherweise durch Verlust von Linsenmaterial bei defekter hinterer Linsenkapsel. Die Aminosäurenkonzentrationen im Fruchtwasser waren mit Ausnahme von deutlichen Erhöhungen von Lysin und Prolin normal.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 4
    ISSN: 1432-1076
    Keywords: Glycogenosis ; Granulocytopenia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 5
    ISSN: 1432-1076
    Keywords: Wolman's disease ; Storage ; Cholesterylester ; Triglycerides ; Acid lipase ; Adrenal calcification ; Dyserythropoietic changes ; Foam cells
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: 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.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 6
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 152 (1993), S. 339-342 
    ISSN: 1432-1076
    Keywords: Peroxisomes ; Inborn error ; Hepatosplenomegaly ; Psychomotor retardation ; Fatty acid
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe a 16-year-old boy suffering from psychomotor retardation, sensorineuronal hearing impairment, peripheral neuropathy, hepatosplenomegaly, short stature and delayed puberty. Postnatally, muscular hypotonia, mild facial dysmorphism and delayed fontanelle closure had been noticed. At the time of our examination, adrenal cortical function was normal. Biochemical analysis revealed accumulation of very long (〉C22) chain fatty acids in plasma and fibroblasts. Furthermore, elevated levels of intermediates of bile acid synthesis and phytanic acid were detectable. These findings are consistent with a defect in the peroxisomal β-oxidation system. A generalised defect of peroxisomal function was excluded by normal plasmalogen levels in erythrocytes and normal plasmalogen de novo synthesis in fibroblasts. Immunoblotting of the peroxisomal β-oxidation enzymes gave normal results suggesting retained immunoreactivity but catalytic inactivity of one of the enzymes involved, probably either the trifunctional protein or the peroxisomal ketothiolase. This case markedly differs clinically from the few published reports on isolated deficiencies of peroxisomal β-oxidation. Among the patients with comparable biochemical findings, this is the first report of survival into adolescence.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 7
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 152 (1993), S. 452-454 
    ISSN: 1432-1076
    Keywords: Infant Nutrition ; Faecal excretion ; Gastro-intestinal passage time
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Data on normal defaecation patterns in relation to diet during the first months of infancy are very limited. We therefore investigated in a prospective study faecal weight and gastro-intestinal passage time of breast fed (n=12) and formula fed (n=14) male infants. These were studied in 72 h collecting periods at the age of 17, 35, 57, 87 and 113 (±4) days. Breast fed infants had a significantly lower daily dry faecal weight than formula fed infants in all periods investigated (median at the age of 113 days: 0.28 (0.17–0.75) g/kg and 0.81 (0.22–1.2) g/kg, respectively). Breast fed infants showed a large variation of gastro-intestinal passage time (6.79 h [range: 1.79–13.38 h] at the age of 17 days, 21.84 h [range: 5.41–75 h] at the age of 113 days). Comparable values of formula red infants were 13.75 h (range: 7.13–35.25 h) and 17.42 h (range: 5.38–36.5 h). Despite the efforts of approximation of infant formula to breast milk, differences of defaecation patterns in relation to diet are still relevant at this age and have to be considered in clinical practice.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 8
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 9
    ISSN: 1432-1076
    Keywords: Key words Fanconi-Bickel syndrome ; Facilitative glucose transport ; Glut2 ; Glycogen storage disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: 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.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 10
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 140 (1983), S. 283-288 
    ISSN: 1432-1076
    Keywords: Glycogen storage disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: 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.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...