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  • 1
    Digitale Medien
    Digitale Medien
    PRECIPITATED SELENIUM DIOXIDE1 (1929)
    s.l. : American Chemical Society
    Journal of the American Chemical Society 51 (1929), S. 3177-3184 
    Details
    ISSN: 1520-5126
    Quelle: ACS Legacy Archives
    Thema: Chemie und Pharmazie
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1021/ja01386a001
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  • 2
    Digitale Medien
    Digitale Medien
    Smith-Lemli-Opitz-Syndrom Stoffwechseldefekt der Cholesterolbiosynthese als Ursache eines häufigen Fehlbildungssyndroms* (1997)
    Springer
    Monatsschrift Kinderheilkunde 145 (1997), S. 806-809 
    Details
    ISSN: 1433-0474
    Schlagwort(e): Schlüsselwörter Smith-Lemli-Opitz-Syndrom ; Cholesterolbiosynthesedefekte ; 7-Dehydrocholesterol ; Key words Smith-Lemli-Opitz syndrome ; Inborn error in cholesterol biosynthesis ; 7-Dehydrocholesterol
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Beschreibung / Inhaltsverzeichnis: Summary This report presents two patients with Smith-Lemli-Opitz syndrome of different severity. The Smith-Lemli-Opitz syndrome is an autosomal recessively inherited metabolic disorder characterized by failure to thrive, neurologic dysfunction, facial dysmorphism, skeletal and organ malformations. Recently, the Smith-Lemli-Opitz syndrome was shown to be due to an inborn error of cholesterol biosynthesis diagnosable by markedly elevated levels of serum 7-dehydrocholesterol. There is a wide variability in the clinical presentation and some patients may present with only mild abnormalities. Discussion: The possibility of the diagnosis of a Smith-Lemli-Opitz syndrome should be included in the differential diagnosis of patients with failure to thrive and developmental retardation.
    Notizen: Zusammenfassung Wir berichten über 2 Patientinnen mit unterschiedlich schwerer Ausprägung eines biochemisch gesicherten Smith-Lemli-Opitz-Syndroms, einer autosomal-rezessiv vererbten Stoffwechselerkrankung, die durch eine schwere Gedeihstörung, eine psychomotorische Retardierung, kraniofaziale Dysmorphien, Skelett- und Organfehlbildungen charakterisiert ist. Pathophysiologisch liegt ein Defekt in der Cholesterolbiosynthese zugrunde. Seit kurzem kann die Diagnose über den Nachweis eines erhöhten 7-Dehydrocholesterols im Serum gesichert werden. Die Symptome können variabel ausgeprägt sein, und insbesondere milde Formen präsentieren sich häufig unspezifisch. Diskussion: Bei Gedeihstörung und Entwicklungsverzögerungen unklarer Ursache sollte ein Smith-Lemli-Opitz-Syndrom in die differentialdiagnostischen Überlegungen einbezogen werden.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/s001120050181
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  • 3
    Digitale Medien
    Digitale Medien
    Diagnose und Behandlung des Ornithintranscarbamylase(OTC)-Mangels (1998)
    Springer
    Monatsschrift Kinderheilkunde 146 (1998), S. 652-658 
    Details
    ISSN: 1433-0474
    Schlagwort(e): Schlüsselwörter OTC ; Harnstoffzyklus ; Hyperammonämien ; Heterozygotentest ; Key words OTC ; Urea cycle ; Hyperammonemia ; Heterozygotes
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Beschreibung / Inhaltsverzeichnis: Summary Ornithine transcarbamylase deficiency is the most frequent inborn error of metabolism of the urea cycle which causes severe hyperammonemia in hemizygous boys within the first days of life. However, also girls heterozygous for this x-linked disorder can develop life-threatening hyperammonemia and chronic progressive encephalopathy. This paper describes the emergency treatment of first manifestations including all necessary diagnostic measures as well as the longterm therapy and its control. Enclosed are the details about the allopurinol challenge test for the detection of heterozygous women and girls.
    Notizen: Zusammenfassung Der Ornithintranscarbamylasemangel ist der häufigste angeborene Defekt des Harnstoffzyklus. Er wird im Gegensatz zu anderen akut verlaufenden angeborenen Stoffwechselerkrankungen X-chromosomal vererbt. Betroffene Jungen zeigen in der Regel schon in den ersten Lebenstagen infolge einer sich ausbildenden Hyperammonämie schwere klinische Symptome wie zunehmende Lethargie, Erbrechen, Krampfanfälle und Koma. Aber auch Überträgerinnen können lebensbedrohliche Hyperammonämien sowie progrediente chronische Enzephalopathiesyndrome entwickeln. Die Notfallbehandlung bei der Erstmanifestation inklusive aller diagnostischer/differentialdiagnostischer Maßnahmen sowie die Langzeittherapie und Stoffwechselüberwachung dieser Patienten sind in der vorliegenden Arbeit beschrieben. Zusätzlich wird über den Allopurinoltest berichtet, der zur Erfassung Heterozygoter verwendet wird.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/s001120050305
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  • 4
    Digitale Medien
    Digitale Medien
    Impaired deformability of erythrocytes and neutrophils in children with newly diagnosed insulin-dependent diabetes mellitus (1999)
    Springer
    Diabetologia 42 (1999), S. 865-869 
    Details
    ISSN: 1432-0428
    Schlagwort(e): Keywords Blood viscosity ; diabetes mellitus ; erythrocyte aggregation ; erythrocyte deformability ; haemorrheology ; neutrophils.
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Aims/hypothesis. Abnormal rheological properties of erythrocytes, leucocytes and plasma may have a role in the development of diabetic microangiopathy. We hypothesized that changed haemorrheological variables may already be found in children with onset diabetes. Methods. Erythrocyte deformation (rheoscope), neutrophil deformation (micropipette), erythrocyte aggregation, blood and plasma viscosity were measured in 15 children with insulin-dependent diabetes mellitus before initiation of insulin treatment and 4 to 6 weeks later, 15 diabetic children treated with insulin for 5 to 8 years, 15 healthy children and 15 healthy adults. Results. At a low shear stress of 0.6 Pa, erythrocyte deformation was decreased in the diabetic children before (–28 %), after 4 to 6 weeks (–22 %) and after 5 to 8 years (–17 %) of insulin treatment compared with healthy children. More active neutrophils were counted in the untreated diabetic children (9 ± 6 %) than in healthy children (3 ± 2 %). Deformability of passive neutrophils was greatly decreased in the children with onset diabetes and moderately reduced in the diabetic children who were treated with insulin. Neutrophil deformation (r = –0.52) and erythrocyte deformation at 0.6 Pa (r = –0.62) were inversely related to haemoglobin A1 c. Haematocrit and blood viscosity were increased in the untreated children and in the children treated with insulin for 5 to 8 years. Plasma viscosity and erythrocyte aggregation were similar in the three groups of children. Conclusion/interpretation. Decreased erythrocyte deformation at low shear force, increased count of active neutrophils and impaired deformability of passive neutrophils may increase the risk for acute cerebro-vascular complications in children with uncontrolled insulin-dependent diabetes mellitus. [Diabetologia (1999) 42: 865–869]
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/s001250051239
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  • 5
    Digitale Medien
    Digitale Medien
    Selective screening for inborn errors of metabolism-past, present and future (1994)
    Springer
    European journal of pediatrics 153 (1994), S. 920-920 
    Details
    ISSN: 1432-1076
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF01954750
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  • 6
    Digitale Medien
    Digitale Medien
    Selective screening for inborn errors of metabolism — past, present and future (1994)
    Springer
    European journal of pediatrics 153 (1994), S. S2 
    Details
    ISSN: 1432-1076
    Schlagwort(e): Inborn errors of metabolism ; Selective screening ; Treatment of inherited metabolic diseases ; Follow up of inherited metabolic diseases ; Organic acid disorders
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Selective screening for hereditary metabolic disorders has developed from a highly specialized activity, provided mostly by research oriented scientists, to an important diagnostic tool in the work-up of paediatric patients. A brief overview is given of the present status of selective screening in Europe, the USA and Israel including the distribution of centres and resources for diagnosis, therapy and follow-up. Current status and most pressing problems vary widely between different countries. Most countries still lack an organized network of clinical genetic centres which are capable of competent and comprehensive diagnostic and therapeutic services. For example, it must be assumed that more than 60% of patients with inherited metabolic diseases, which could be diagnosed nowadays, remain un(mis)diagnosed in former Western Germany. Early diagnosis and treatment are important determinants for a successful approach towards inherited metabolic diseases. Therefore, screening and therapy for inborn errors of metabolism has to be organized in clinical genetic centres, each serving a population between 2 and 4 million. The quality of the services provided depends on good pre-and postgraduate training of physicians (paediatricians) in the field of metabolic diseases, good co-operation between the referring physician and the clinical genetic centre and a broad spectrum of highly specialized metabolic investigations in the respective centre. The institutionalization has to include licensing of laboratories, directors and personnel, as well as quality control and proficiency testing. The size of the centres cannot be judged on the basis of the work involved with selective screening for inborn errors of metabolism alone. The number of diagnosed patients suffering from treatable metabolic disorders, such as those of amino or organic acid metabolism, are cumulative. The patients need lifelong dietary therapy, clinical assessment and biochemical monitoring.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF02138769
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  • 7
    Digitale Medien
    Digitale Medien
    Atypical vitamin B12-unresponsive methylmalonic aciduria in a sibship with severe progressive encephalomyelopathy: a new genetic disease? (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 398-403 
    Details
    ISSN: 1432-1076
    Schlagwort(e): Key words Methylmalonic ; aciduria ; Vitamin B12 ; GABA ; Cerebrospinal fluid ; Encephalomyelopathy
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract We report on two siblings, a girl of 7 years and a boy of 2 years, who presented in infancy with hypotonia, athetoid movements, myopathy and severe developmental delay. The progressive clinical course was characterized by ophthalmoplegia, pyramidal tract signs, loss of visual contact and failure to thrive. The older sister died at the age of 7 years. The younger brother followed an almost identical clinical course. MRI of the brain revealed bilateral hypodensities and atrophy of the putamen. Neurophysiological investigations were consistent with peripheral neuropathy. Investigations for neurometabolic disorders in urine, plasma and CSF of both patients revealed a consistent increase of methylmalonic acid in urine, plasma and CSF as well as borderline low free GABA in CSF. Except for an inconstant elevation of lactate in the boy, metabolic acidosis, hypoglycaemia, episodic ketoacidosis, or hyperammonaemia, the usual concomitants of organoacidopathies, were absent in both children. Homocystinuria was excluded. Methylmalonic aciduria did not respond to antibiotic treatment, vitamin B12 therapy nor dietary protein restriction. Incorporation of [14C]propionate into protein in cultured fibroblasts was pathologically but inconsistently decreased. Both patients’ cell lines showed only minimal response to hydroxocobalamin and normal methylmalonyl-CoA mutase activity. Conclusion Even though the definitive underlying enzymatic defect in this sibship remains obscure our results suggest a new genetic disorder. This report illustrates that hitherto undescribed metabolic disorders remain to be elucidated even in long investigated areas of intermediary metabolism such as methylmalonic aciduria.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF01955272
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  • 8
    Digitale Medien
    Digitale Medien
    Neurological manifestations of organic acid disorders (1994)
    Springer
    European journal of pediatrics 153 (1994), S. S94 
    Details
    ISSN: 1432-1076
    Schlagwort(e): Organic acid disorders ; Neurological symptoms ; Central nervous system ; Cerebrospinal fluid
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Neurological manifestations are very common and can be the leading and/or presenting feature in organic acid disorders, sometimes in the absence of metabolic derangement. Review of the time course and presentation of neurological disease in organic acid disorders reveals characteristic clinical findings of ataxia, myoclonus, extrapyramidal symptoms, metabolic stroke and megalencephaly. A group of organic acid disorders presents exclusively with neurological symptoms. These include glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I), succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria), mevalonic aciduria,n-acetylaspartic aciduria (Canavan disease) andl-2-hydroxyglutaric aciduria. As a group these “cerebral” orgamic acid disorders appear to remain often undiagnosed and their true incidence is much less wellknown than that of the “classical” organic acid disorders. Unfortunately, stringent guidelines for a clinical preselection of neuropaediatric patients to be investigated for organic acid disorders cannot be provided. Today, screening for neurometabolic disorders should be as comprehensive as possible and include determinations of amino acids, purines and pyrimidines and markers of peroxisomal function in addition to organic acid analysis.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF02138786
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  • 9
    Digitale Medien
    Digitale Medien
    Selective screening for inborn errors of metabolism – past, present and future (1994)
    Springer
    European journal of pediatrics 153 (1994), S. S2 
    Details
    ISSN: 1432-1076
    Schlagwort(e): Key words: Inborn errors of metabolism – Selective screening – Treatment of inherited metabolic diseases – Follow up of inherited metabolic diseases – Organic acid disorders
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract. Selective screening for hereditary metabolic disorders has developed from a highly specialized activity, provided mostly by research oriented scientists, to an important diagnostic tool in the work-up of paediatric patients. A brief overview is given of the present status of selective screening in Europe, the USA and Israel including the distribution of centres and resources for diagnosis, therapy and follow-up. Current status and most pressing problems vvary widely between different countries. Most countries still lack an organized network of clinical genetic centres which are capable of competent and comprehensive diagnostic and therapeutic services. For example, it must be assumed that more than 60% of patients with inherited metabolic diseases, which could be diagnosed nowadays, remain un(mis)diagnosed in former Western Germany. Early diagnosis and treatment are important determinants for a successful approach towards inherited metabolic diseases. Therefore, screening and therapy for inborn errors of metabolism has to be organized in clinical genetic centres, each serving a population between 2 and 4 million. The quality of the services provided depends on good pre- and postgraduate training of physicians (paediatricians) in the field of metabolic diseases, good co-operation between the referring physician and the clinical genetic centre and a broad spectrum of highly specialized metabolic investigations in the respective centre. The institutionalization has to include licensing of laboratories, directors and personnel, as well as quality control and proficiency testing. The size of the centres cannot be judged on the basis of the work involved with selective screening for inborn errors of metabolism alone. The number of diagnosed patients suffering from treatable metabolic disorders, such as those of amino or organic acid metabolism, are cumulative. The patients need lifelong dietary therapy, clinical assessment and biochemical monitoring.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF02138769
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  • 10
    Digitale Medien
    Digitale Medien
    Preface (1994)
    Springer
    European journal of pediatrics 153 (1994), S. S1 
    Details
    ISSN: 1432-1076
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF02138768
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