Library

X
feed icon rss

Your email was sent successfully. Check your inbox.

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

Proceed reservation?

Export
  • 1
    Electronic Resource
    Electronic Resource
    Inability of galactose to mobilize insulin in galactokinase-deficient individuals (1969)
    Springer
    Diabetologia 5 (1969), S. 143-145 
    Details
    ISSN: 1432-0428
    Keywords: Insulin ; galactose ; galactokinase ; deficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Résumé Chez deux adultes souffrant d'une déficience en galactokinase la charge orale de galactose a été suivie d'une hypergalactosémie prolongée sans aucune élevation de l'insuline immunoréactive plasmatique.
    Abstract: Zusammenfassung Orale Belastung mit Galactose führte bei zwei Erwachsenen mit Galactokinasemangel zu einer prolongierten Hypergalactosämie, aber nicht zu einem Anstieg des immunoreaktiven Insulins im Plasma.
    Notes: Summary Oral galactose loading in two galactokinase-deficient adults produced the expected high and prolonged rise of galactose in peripheral blood, but no rise of circulating immunoreactive insulin.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01213671
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    Hypergalactosaemia and portosystemic encephalopathy due to persistence of ductus venosus Arantii (1992)
    Springer
    European journal of pediatrics 151 (1992), S. 564-568 
    Details
    ISSN: 1432-1076
    Keywords: Colour Doppler sonography ; Ductus venosus Arantii ; Hepatic encephalopathy ; Hypergalactosaemia ; Newborn screening ; Portosystemic shunting
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Hypergalactosaemia was discovered in a newborn girl during routine metabolic screening. Hereditary enzyme deficiency was ruled out. Because hypergalactosaemia persisted, an open ductus venosus Arantii was suspected but remained undetected by conventional two-dimensional ultrasonography. It was demonstrated by combined colour and pulsed wave Doppler sonography. At age 3 years 6 months, the girl developed initial symptoms of portosystemic encephalopathy which progressed and was treated by protein restriction, oral lactulose and flumazenil, with some success. In the absence of enzyme deficiency, hypergalactosaemia in the newborn is an early sign of duct persistence. For the unambiguous diagnosis of an open duct, colour Doppler sonography is the method of choice. Pulsed wave Doppler sonography is recommended for pathophysiological characterisation of the splanchnic venous return.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01957721
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Liver glycogen synthase deficiency: A rarely diagnosed entity (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 561-567 
    Details
    ISSN: 1432-1076
    Keywords: Glycogen deficiency ; Glycogen synthase ; Ketotic hypoglycaemia ; Corn (maize) starch ; Electron microscopy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Three children from two German families are described and the observations compared with the previously published three families comprising eight patients. The two index cases presented with morning fatigue, had ketotic hypoglycaemia when fasting which rapidly disappeared after eating, and hepatic glycogen deficiency and absent or very low hepatic glycogen synthase activity. Metabolic profiles comprising glucose, lactate, alanine, and ketones in blood were typical for hepatic glycogen synthase deficiency. Symptoms were rapidly relieved and chemical signs corrected by introducing frequent protein-rich meals and night-time feedings of suspensions of uncooked corn (maize) starch. The discovery of oligosymptomatic and asymptomatic siblings suggests that there are more persons with undiagnosed hepatic glycogen synthase deficiency.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01957905
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 4
    Electronic Resource
    Electronic Resource
    Anomalous eosinophil granulocytes in blood and bone marrow: a diagnostic marker for infantile GM1-gangliosidosis? (1985)
    Springer
    European journal of pediatrics 144 (1985), S. 82-84 
    Details
    ISSN: 1432-1076
    Keywords: Eosinophil granulocytes ; GM1-gangliosidoses
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract On routine smears of blood and bone marrow of four patients with GM1 gangliosidosis type I, eosinophil granulocytes were unusually pale and contained faintly stained, unevenly spaced granules some of which were larger than normal and had abnormal ultrastructural appearance. The anomaly may represent a hitherto overlooked but easily obtainable diagnostic marker.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00491934
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 5
    Electronic Resource
    Electronic Resource
    Fructose-1,6-diphosphatase deficiency: glycerol excretion during fasting test (1985)
    Springer
    European journal of pediatrics 144 (1985), S. 203-204 
    Details
    ISSN: 1432-1076
    Keywords: Fructose 1,6-diphosphatase deficiency ; Glycerol excretion
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A Turkish boy had suffered since the age of 10 months from recurrent attacks of severe metabolic acidosis and hypoglycaemia precipitated by moderate respiratory tract infections. A liver biopsy showed lack of fructose 1,6-diphosphatase and absence of phosphorylase. The patient died in shock following fructose ingestion. Upon fasting, acidosis with increased lactate and glycerol excretion was found. Findings indicate that, in this inherited disorder of gluconeogenesis, lactic acidosis combined with increased glycerol excretion upon fasting are of diagnostic importance.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00451915
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 6
    Electronic Resource
    Electronic Resource
    Oral cornstarch therapy: Is persorption harmless? (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 592-594 
    Details
    ISSN: 1432-1076
    Keywords: Cornstarch ; Maize starch ; Persorption ; Glycogenosis type I
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Sediments prepared from freshly voided urine of four patients with glycogenosis Ia, or leucine-sensitive hypoglycaemia, on oral cornstarch therapy contained starch granules, evidence for persorption i.e. the incorporation of undissolved starch particles. In these patients, amyluria was more marked than in untreated controls. While cornstarch therapy is successful and causes few side-effects, the possibility of late adverse reactions to persorbed starch should not be disregarded.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01954087
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 7
    Electronic Resource
    Electronic Resource
    A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia (1995)
    Springer
    European journal of pediatrics 154 (1995), S. 215-219 
    Details
    ISSN: 1432-1076
    Keywords: Chondrodysplasia ; Dominant mutation ; Amino acid substitution ; Allelic heterogeneity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Achondroplasia, the most common form of chondrodysplasia, has been associated with mutations in the gene of the fibroblast growth factor receptor-3 (FGFR-3) on chromosome 4p. All 39 achondroplasia alleles studied so far carried point mutations which caused the same amino acid exchange, a substitution of glycine by arginine at position 380 (G380R) in the transmembrane domain of the receptor. We report on a newborn with achondroplasia who does not carry a G380R mutation but has a mutation causing substitution of a nearby glycine with a cysteine (G375C). This observation indicates allelic heterogeneity and confirms the role of mutations in the transmembrane domain of FGFR-3 in the pathogenesis of achondroplasia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01954274
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 8
    Electronic Resource
    Electronic Resource
    A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia (1995)
    Springer
    European journal of pediatrics 154 (1995), S. 215-219 
    Details
    ISSN: 1432-1076
    Keywords: Key words Chondrodysplasia ; Dominant mutation ; Amino acid ; substitution ; Allelic heterogeneity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Achondroplasia, the most common form of chondrodysplasia, has been associated with mutations in the gene of the fibroblast growth factor receptor-3 (FGFR-3) on chromosome 4p. All 39 achondroplasia alleles studied so far carried point mutations which caused the same amino acid exchange, a substitution of glycine by arginine at position 380 (G380R) in the transmembrane domain of the receptor. We report on a newborn with achondroplasia who does not carry a G380R mutation but has a mutation causing substitution of a nearby glycine with a cysteine (G375C). This observation indicates allelic heterogeneity and confirms the role of mutations in the transmembrane domain of FGFR-3 in the pathogenesis of achondroplasia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01954274
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 9
    Electronic Resource
    Electronic Resource
    Microcephaly and maternal phenylketonuria (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 992-992 
    Details
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02282896
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 10
    Electronic Resource
    Electronic Resource
    Infant dumping syndrome: Reversal of symptoms by feeding uncooked starch (1986)
    Springer
    European journal of pediatrics 145 (1986), S. 504-506 
    Details
    ISSN: 1432-1076
    Keywords: Dumping syndrome ; Gastro-oesophageal reflux disease ; Uncooked starch ; Nissen fundoplication
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Two infants with dumping syndrome after Nissen's fundoplication were bolus-fed with regular cows' milk formula and with test meals containing either cooked or uncooked starch. Cows' milk formula and test meals made with cooked starch provoded dumping symptoms, hyperglycaemia and hyperinsulinaemia. Dumping symptoms vanished and normoglycaemia was established when meals contained uncooked starch as the sole carbohydrate. The findings suggest that uncooked starch has a place in the dietary control of dumping syndrome in infants and possibly in adults.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02429052
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...