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  • 11
    Electronic Resource
    Electronic Resource
    Glycogen storage disease type Ib: familial bleeding tendency (1984)
    Springer
    European journal of pediatrics 143 (1984), S. 7-9 
    Details
    ISSN: 1432-1076
    Keywords: Glycogen storage disease type Ib ; Familial bleeding tendency ; Platelet dysfunction ; von Willebrand disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A mild bleeding tendency with characteristics of the von Willebrand disease was documented in family members of a girl with glycogen storage disease type Ib (GSD) Ib). It was assumed that a defective glucose-6-phosphate dependent microsomal glycoprotein synthesis was involved in the bleeding disorder of the patient and the GSD Ib heterozygotes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442739
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  • 12
    Electronic Resource
    Electronic Resource
    Comparison of umbilical arterial versus umbilical venous blood PH correlated with arterio-venous glucose difference and cardiotocographic score (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 840-843 
    Details
    ISSN: 1432-1076
    Keywords: Perinatal asphyxia ; Umbilical blood pH ; Umbilical arterio-venous glucose difference ; Cardiotocography
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The value of clinical parameters and umbilical arterial blood pH as indicator of prenatal hypoxia is disputed. In a prospective study of 86 vaginally delivered full-term infants, cardiotocographic (CTG) findings obtained 0–30 min and 30–60 min before birth were compared to pH values, O2 and CO2 partial pressures and glucose difference in umbilical arterial and venous blood. CTG findings were expressed as a score, higher values indicating fetal hypoxia. The venous but not the arterial blood pH was significantly related to the later (0–30 min) CTG score. The arterio-venous glucose difference was significantly related to both CTG scores. There was a significant statistical relationship between glucose difference and venous but not arterial blood pH. The later CTG score (0–30 min) also correlated significantly with O2 and CO2 partial pressures and base excess in the umbilical vein of all vaginally born infants. If CTG is accepted as an objective indicator of fetal hypoxia before birth, the arterio-venous glucose difference, and in the investigated range of pH-values, umbilical venous blood pH are more suitable than the arterial blood pH to ascertain the peripartal situation of the newborn.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02073383
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  • 13
    Electronic Resource
    Electronic Resource
    Sekundäre Cystathioninurie (1971)
    Springer
    European journal of pediatrics 110 (1971), S. 46-58 
    Details
    ISSN: 1432-1076
    Keywords: Secondary Cystathioninuria ; Cystathionine ; Identification ; Amino Acids ; Liver Diseases
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Es werden Methoden dargestellt, mit denen eine quantitativ geringe Cystathioninausscheidung im Urin festgestellt und bewiesen werden kann. Es wurden 5 Kinder gefunden, die eine mäßige Cystathioninausscheidung aufwiesen (14,5–99,0 μMol/Tag). Die klinischen Befunde dieser Patienten werden dargestellt. Drei von ihnen hatten Leberaffektionen, eines eine nichtketotische Hyperglycinämie, und bei einem Kind handelte es sich um ein Neugeborenes mit multiplen Fehlbildungen. Bei allen Fällen lag eine sekundäre Cystathioninurie vor. Die Ursachen, die zu einer sekundären Cystathioninurie führen, werden besprochen.
    Notes: Abstract A secondary cystathionuria was found in two children with liver disease (cirrhosis of unknown etiology, congenital biliary atresia), in one infant with hypercalcemia due to high doses of vitamin D, in one case of non-ketotic hyperglycinemia, and in one infant with multiple malformations. Methods for the determination of cystathionine, when excreted in only small amounts, are outlined.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00446345
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  • 14
    Electronic Resource
    Electronic Resource
    Glycogenosis type Ib. Further evidence for a membrane disease (1981)
    Springer
    European journal of pediatrics 135 (1981), S. 325-325 
    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/BF00442112
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  • 15
    Electronic Resource
    Electronic Resource
    Hyperdibasicaminoaciduria in a Turkish infant without evident protein intolerance (1979)
    Springer
    European journal of pediatrics 131 (1979), S. 33-41 
    Details
    ISSN: 1432-1076
    Keywords: Hyperdibasicaminoaciduria ; Lysinuric protein intolerance ; Loading tests ; Lysine ; Alanine ; Arginine
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The first patient of Turkish descent with hyperdibasicaminoaciduria is described. Recurrent diarrhea was observed only during the first three months of life. The infant exhibited low plasma levels of ornithine and arginine. Intestinal absorption of lysine was decreased. Hyperammonemia was noticed only after an i.v. alanine load. It was prevented by addition of arginine.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442783
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  • 16
    Electronic Resource
    Electronic Resource
    Hypocalcemic myopathy in idiopathic hypoparathyroidism (1982)
    Springer
    European journal of pediatrics 138 (1982), S. 280-282 
    Details
    ISSN: 1432-1076
    Keywords: Hypocalcemia ; Myopathy ; Hypoparathyroidism ; Creatine kinase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A girl with untreated idiopathic hypoparathyroidism presented with muscle weakness, depressed tendonreflexes and elevated serum creatine kinase. No morphological alterations of skeletal muscle or inhibition of muscle phosphorylase could be demonstrated. It is suggested that the myopathic symptoms may be due to functional changes of the muscle membrane during hypocalcemia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441220
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  • 17
    Electronic Resource
    Electronic Resource
    Rett syndrome revisited: A patient with biotin dependency (1986)
    Springer
    European journal of pediatrics 144 (1986), S. 563-566 
    Details
    ISSN: 1432-1076
    Keywords: Rett syndrome ; Hyperammonemia ; Multiple carboxylases ; Holocarboxylase synthetase ; Biotinidase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A patient with Rett syndrome (cerebral atrophy associated with hyperammonemia) was studied. Primary defects of urea cycle enzymes were excluded as causes of the disorder. The analysis of urinary organic acids showed a moderate increase of lactate, methylcitrate, tiglylglycine and 3-hydroxisovalerate, indicating an abnormality of multiple carboxylases. Biotin supplementation reversed the urinary abnormalities. In fibroblasts grown with a low biotin medium propionylCoA and 3-methylcrotonylCoA carboxylase activities were reduced. Holocarboxylase synthetase activity was normal (V max and Km). Surprisingly the biotinidase in fibroblasts was not decreased. The data indicate that some patients with Rett syndrome might suffer from a biotin-dependent defect of unknown nature.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00496036
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  • 18
    Electronic Resource
    Electronic Resource
    Glycogen storage disease: recommendations for treatment (1988)
    Springer
    European journal of pediatrics 147 (1988), S. 226-228 
    Details
    ISSN: 1432-1076
    Keywords: Glycogen storage disease ; Glucose-6-phosphatase ; Glucose-6-phosphate translocase ; Debranching enzyme ; Phosphorylase-6-kinase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: 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.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442683
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  • 19
    Electronic Resource
    Electronic Resource
    The Lesch-Nyhan syndrome (1973)
    Springer
    European journal of pediatrics 114 (1973), S. 119-130 
    Details
    ISSN: 1432-1076
    Keywords: Lesch-Nyhan syndrome ; Adenine therapy ; Glycine ; Excretion of purine bases in urine
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Metabolic studies in a case of Lesch-Nyhan syndrome are presented. De novo synthesis of purine was shown to be inhibited upon adenine administration. The excretion of oxypurines is elevated, however, by an increased incorporation of the administered adenine into purine bases. A side effect of adenine administration is the production of the slightly soluble and highly nephrotoxic 2,8-dioxyadenine, which can cause renal damage.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00440499
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  • 20
    Electronic Resource
    Electronic Resource
    The treatment of intractable diarrhea by the method of “Baustein” principle using a casein hydrolisate (1977)
    Springer
    European journal of pediatrics 124 (1977), S. 89-100 
    Details
    ISSN: 1432-1076
    Keywords: Intractable diarrhea ; Celiac disease ; Treatment ; Casein hydrolisate ; Amino acids
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Ten infants with intractable diarrhea, celiac disease and small bowel resection were treated with a special dietetic regimen called “Baustein” principle. The three major food constituents were added to the formula stepwise: first glucose and maltodextrin followed by protein and vegetable oil or MCT oil. The protein source was a newly developed casein hydrolisate also containing minerals, trace elements and vitamins.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00477544
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