[Hyperammonemia due to ornithine transcarbamylase deficiency--a cause of lethal metabolic crisis during the newborn period and infancy (author's transl)].

Abstract:

:A severe hyperammonemia is the characteristic finding in patients with enzyme defects in urea cycle and one of the main causes of the acute metabolic crisis dsuring the newborn period and infancy. A case report is given about two male infants, who died in the age of one and of seven months respectively. In the second child the blood ammonia concentration raised up to 833 micrograms/100 ml, and, OTC deficiency was diagnosed due to enzyme determination in liver biopsie. Probably, the first child, that also died as newborn, suffered from the same disease. In this case, only post mortem findings are available.

journal_name

Klin Padiatr

journal_title

Klinische Padiatrie

authors

Schuchmann L,Colombo JP,Fischer H

doi

10.1055/s-2008-1035594

subject

Has Abstract

pub_date

1980-05-01 00:00:00

pages

281-5

issue

3

eissn

0300-8630

issn

1439-3824

journal_volume

192

pub_type

杂志文章
  • [Cow's milk allergy: guidelines for the diagnostic evaluation].

    abstract::About 2% of the general population and up to 6% of children suffer from food allergy. Cow's milk is charged with a important role in infancy after weaning, since conventional formula are based on its procession. IgE-mediated and Non-IgE- mediated allergic reactions, which are different in manifestation and pathogenesi...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2006-921357

    authors: Kirchlechner V,Dehlink E,Szepfalusi Z

    更新日期:2007-07-01 00:00:00

  • Sexual dimorphism of neonatal lung development.

    abstract:BACKGROUND:Gender differences in overall neonatal survival and in short term pulmonary outcome have been reported. Furthermore gender differences in childhood chronic lung disorders have been described all in favor of females. METHODS:A typical survey on published data regarding gender differences in lung development ...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章,评审

    doi:10.1055/s-0033-1333758

    authors: Gortner L,Shen J,Tutdibi E

    更新日期:2013-03-01 00:00:00

  • [Invagination: diagnosis and conservative therapy].

    abstract::The article reports on the case history of a 8 month old baby who fell ill of a ileocolic intussusception. The barium enema demonstrated the typical cupping in the head of the barium. The successful reposition by hydrostatic pressure was manifest by barium reflux in the small intestine. ...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1034383

    authors: Klingmüller V

    更新日期:1983-07-01 00:00:00

  • Survival after an antiangiogenetic therapy and surgery in a wide spread growing teratoma originating from a testicular mixed malignant germ cell tumor.

    abstract::Growing teratoma is still an often unsolved problem especially in male with mixed malignant GCTs of the testis or the mediastinum. This specific situation with progressive tumor growth and simultaneous normalization of tumor markers during or after treatment of malignant GCTs with teratomatous elements is judged as a ...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-0029-1220738

    authors: Calaminus G,Schneider DT,Weissbach L,Schönberger S,Okpanyi V,Leuschner I,Poremba C,Göbel U

    更新日期:2009-05-01 00:00:00

  • [Elimination of fat emulsions of various concentrations from the blood. Observational study in the intravenous administration of Lipovenös 10% and 20% in premature infants with very low birth weight].

    abstract::Within the scope of an observation study 40 premature low birth weight infants requiring parenteral nutrition received either 10% or 20% lipid emulsions (Lipovenös) for 7 days. The 10% lipid emulsion differs from the 20% lipid emulsion in the higher phospholipid/triglyceride-ratio (0.06 resp. 0.12). Lipid infusion was...

    journal_title:Klinische Padiatrie

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1055/s-2007-1025318

    authors: Hanssler L,Schlotzer E,Blenkers B,Roll C,Zhou C,Kordass U

    更新日期:1992-01-01 00:00:00

  • [Acute leukemia in a 13-year old boy with a synchronous occurrence of lympho- and monoblasts (author's transl)].

    abstract::The synchronous occurrence of blasts of the lymphatic and myelogenous lineage in acute leukemia has been rarely observed. Reviewing individual case reports it is suggested that malignant transformation already starts at the level of the stem cell. We are reporting a case of a 13-year old boy who initially showed morph...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1034453

    authors: Creutzig U,Eschenbach C,Ritter J,Schellong G

    更新日期:1981-05-01 00:00:00

  • [Changes on platelet adhesion, aggregation and production in course of mumps and mumps meningitis (author's transl)].

    abstract::In 20 children with mumps and mumps meningitis thrombocyte functions, the thrombopoiesis and the platelet count were examinated over a four week period. The spontaneous, standardized platelet adhesion and aggregation on silikonized glass surface showed a statistically significant increase from the 5th to the 15th day ...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:

    authors: Lemanczyk S,Podolsak B

    更新日期:1977-09-01 00:00:00

  • [Recurrent subacute endocarditis caused by Streptococcus mutans in a child].

    abstract::Bacterial endocarditis belongs to the rare diseases in childhood. It occurs usually as a single episode and almost exclusively in children with congenital heart disease. In recent years, however, an increased number of renewed endocarditis after the first episode were reported, especially in drug addicts. We present a...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章,评审

    doi:10.1055/s-2008-1046498

    authors: Hunkert F,Handrick W,Kinzel P,Schneider P,Spencker FB,Günther E

    更新日期:1995-01-01 00:00:00

  • [Effects of self-adapting G-DRG system 2004 to 2006 on in-patient services payment in pediatric hematology and oncology patients of a university hospital].

    abstract:BACKGROUND:Reimbursement of inpatient treatment by daily constant charges is replaced by diagnosis- and procedure-related group system (G-DRG) in German acute care hospitals excerpt for psychiatry since 2004. Re-designs of G-DRG system were undertaken in 2005 and 2006. Parallel to implementation requirement- and resour...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2006-942274

    authors: Christaras A,Schaper J,Strelow H,Laws HJ,Göbel U

    更新日期:2006-11-01 00:00:00

  • [Pneumatocele after hydrocarbon aspiration].

    abstract::Report of accidental ingestion and aspiration of lamp oil of a boy aged 16 months. He develops in a few hours a severe pneumonitis with tachycardia. Echocardiography shows diminished contractability. After losing his symptoms, the chest x-rays on the 13th day show bilateral pneumatoceles. The course remains asymptomat...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1043916

    authors: Leuchter D,Stübecke W,Oberschulte-Beckmann D

    更新日期:1998-11-01 00:00:00

  • Clinical outcome of patients with childhood acute lymphoblastic leukaemia and an initial leukaemic blood blast count of less than 1000 per microliter.

    abstract:BACKGROUND:One of the strongest predictive factors for therapy outcome in childhood acute lymphoblastic leukaemia (ALL), treated according to ALL-BFM protocols, is the response to initial prednisone treatment. Prednisone response is characterized by the peripheral leukaemic blast count. The threshold value for the char...

    journal_title:Klinische Padiatrie

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1055/s-2001-16848

    authors: Lauten M,Stanulla M,Zimmermann M,Welte K,Riehm H,Schrappe M

    更新日期:2001-07-01 00:00:00

  • Multiplate whole blood impedance point of care aggregometry: preliminary reference values in healthy infants, children and adolescents.

    abstract:BACKGROUND:The aim of the present study was to evaluate paediatric reference values for platelet function using a point-of-care whole blood impedance aggregometry. METHODS, RESULTS & CONCLUSION: In 265 healthy infants and children aged

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-0030-1249081

    authors: Halimeh S,Angelis Gd,Sander A,Edelbusch C,Rott H,Thedieck S,Mesters R,Schlegel N,Nowak-Göttl U

    更新日期:2010-05-01 00:00:00

  • [Serum prolactin after cerebral and psychogenic seizures in childhood and adolescence--an additional useful method for differentiating the two forms of seizure].

    abstract::Prolactin levels were measured immediately after the seizure in some, and 15 to 20 minutes later in all of 67 children aged between 6 months and 17 years. Values were determined after grand mal, complex partial and petit mal seizures and psychogen seizures. A more than 2 to 3 fold prolactin increase over the baseline ...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2007-1025341

    authors: Kurlemann G,Heyen P,Menges EM,Palm DG

    更新日期:1992-05-01 00:00:00

  • [12 years Austrian newborn screening for inborn errors of metabolism. Results with special reference to phenylketonuria, hyperphenylalaninemia and histidinemia (author's transl)].

    abstract::The Austrian Screening Program performed during the last 12 years 5,833.381 tests in 1,003.841 newborns to detect at last 10 different disorders. 225 cases were uncovered: 81 PKU, 1 Dihydropteridine-Reductase-Deficiency, 37 Hyperphenylalaninemias of long duration, 23 Galactosemias by Transferase deficiency, 6 by Kinas...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1035649

    authors: Thalhammer O,Scheibenreiter S,Knoll E,Wehle E,Schön R

    更新日期:1980-11-01 00:00:00

  • [Immunoglobulin and total protein concentrations in saliva of healthy children (author's transl)].

    abstract::The investigation of Immunoglobulins-and Total protein concentrations in saliva of healthy children shows an agreement with literature, a maturation in individual development of the saliva-producing organs in the mouth. ...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1035623

    authors: Tympner KD,Dörfler S

    更新日期:1980-09-01 00:00:00

  • [Infection-induced pathologic change in respiratory parameters in the young infant].

    abstract::While many aspects related to the etiology and pathogenesis of sudden infant death remain unclear, the ultimate trigger event appears to be an acute regulatory disturbance of the cardiorespiratory neurons of the reticular formation of the brain stem. Retrospective studies have demonstrated that SIDS often occurs after...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2007-1025334

    authors: Sterniste W,Bock W

    更新日期:1992-03-01 00:00:00

  • [A familial brain malformation syndrome with symptomatic hypernatremia].

    abstract::A familial cerebral malformation combined with chronic hypernatremia is reported. We found three children of a Moroccan family with microcephaly and hypoplasia of the frontal brain. The frontal parts of the lateral ventricles were absent. Two of the children had a defect of the midline structures with fusion of the la...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1033901

    authors: Franek A,Böcker H,Kahlen T

    更新日期:1986-09-01 00:00:00

  • The secretory IgA system.

    abstract::The secretory IgA system is common to all mucosal membranes and is presumably of great importance for their defense. In addition to the secretory IgA antibodies produced in a mucosa in response to a local antigenic stimulus there is a spread of this type of IgA response via committed lymphocytes. They originate from c...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1033997

    authors: Hanson LA,Andersson B,Carlsson B,Dahlgren U,Mellander L,Porras O,Svanborg Edén C,Söderström T

    更新日期:1985-07-01 00:00:00

  • [Click-evoked otoacoustic emissions and acoustic brain stem potentials in early detection of hearing disorders in premature and newborn infants after neonatal critical care].

    abstract::Evoked otoacoustic emissions (EOAE) and brainstem acoustic evoked potentials (BAEP) were recorded from 78 children following neonatal intensive care. In 23% no EOAE could be obtained. Hearing impairment in the BAEP was found in 9%. In 22% negative EOAE were found in spite of normal BAEP. According to the latency-inten...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1046586

    authors: Lauffer H,Pröschel U,Gerling S,Wenzel D

    更新日期:1994-03-01 00:00:00

  • Phase I/II intra-patient dose escalation study of vorinostat in children with relapsed solid tumor, lymphoma or leukemia.

    abstract::Members of the histone deacetylase (HDAC) family exhibit great promise as potential drug targets in pediatric tumors including neuroblastoma, medulloblastoma, ependymoma and Ewing's sarcoma. HDAC inhibitors of various structural classes have shown anti-tumoral effects in pre-clinical pediatric tumor models as single a...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章,多中心研究

    doi:10.1055/s-0032-1323692

    authors: Witt O,Milde T,Deubzer HE,Oehme I,Witt R,Kulozik A,Eisenmenger A,Abel U,Karapanagiotou-Schenkel I

    更新日期:2012-10-01 00:00:00

  • [Unusual course of a Guillain-Barré syndrome in connection with an RS-Virus infection in a 10 months old infant].

    abstract::Guillain Barré syndrome (GBS; Synonyma: Polyneuritis, Polyradikulitis) is an acute, inflammatory, demyelinating disease of the peripheral nerve system. Clinical hallmarks are symmetric muscle paralysis, areflexia and pronounced autonomic disturbances. Respiratory failure and cardiovascular instability are the main rea...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2007-971050

    authors: Erler T,Weidner B,Wetzel U,Grunske A

    更新日期:2008-03-01 00:00:00

  • [5-day therapy of bacterial pharyngitis and tonsillitis with cefixime. Comparison with 10 day treatment with penicillin V. Cefixime Study Group].

    abstract::160 children aged 1 to 12 years with clinical diagnosis of bacterial pharyngitis and/or tonsillitis were treated either with cefixime ready-to-use-suspension or penicillin V in an open, controlled and randomized multicenter study. Before treatment a rapid antigen detection test was accomplished and throat swabs were t...

    journal_title:Klinische Padiatrie

    pub_type: 临床试验,杂志文章,多中心研究,随机对照试验

    doi:10.1055/s-2008-1046489

    authors: Adam D,Hostalek U,Tröster K

    更新日期:1996-09-01 00:00:00

  • [Acute acne fulminans et conglobata after the end of high-dose testosterone therapy for hereditary tall stature].

    abstract::We report on a 13.2 years old boy who was treated for tall stature (expected target height of 204.8 +/- 5.4 cm) with high dose of testosterone. Therapy for height reduction was started with testosterone injections (250 mg Testoviron Depot i.m.) once a week. There occurred no side effects during 6 months of treatment. ...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1043822

    authors: Weimann E,Böhles HJ

    更新日期:1999-09-01 00:00:00

  • [Cognitive and motor abilities and behavioural outcome in children after neonatal operation with cardiopulmonary bypass].

    abstract:BACKGROUND:Empirical results about the cognitive, motor and psychic development in patients with d-transposition of the great arteries after arterial switch operation remain unclear. Potential reasons are the patients' initial status, improved perinatal care or the quality of surgery. To exclude quality of surgery as t...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2007-985863

    authors: Vahsen N,Kavsek M,Toussaint-Götz N,Schneider K,Urban AE,Schneider M

    更新日期:2009-01-01 00:00:00

  • [Peritonitis and infection in children with idiopathic nephrotic syndrome].

    abstract::We analyzed episodes of peritonitis and/or sepsis associated with the idiopathic nephrotic syndrome (ns) in 23 children treated between 1975 and 1985 at our clinic. 37.5% of the children with infantile ns, 16% of those with steroidsensible ns, and 13.6% of those with steroidresistant ns developed peritonitis. Children...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1033683

    authors: Feldhoff C,Kleine L,Bachmann H

    更新日期:1988-01-01 00:00:00

  • [Long-term course of 6 boys with congenital nephrogenic diabetes insipidus].

    abstract::From 1975-1986 6 boys with congenital nephrogenic diabetes insipidus were diagnosed at the age of 3 months to 10 years. Symptoms appeared within the first few weeks of life. The diagnosis was confirmed by polyuria, low urinary osmolality (97-225 mosm/kg H20), hypernatraemia (max. 171 mmol/l) and the missing response t...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1026741

    authors: Kaulitz R,Brodehl J

    更新日期:1989-11-01 00:00:00

  • [Comparison of chemotherapy alone with allogeneic bone marrow transplantation in first full remission in children with acute myeloid leukemia in the AML-BFM-83 and AML-BFM-87 studies--matched pair analysis].

    abstract::16 patients of studies AML-BFM-83 and -87 with allogeneic bone marrow transplantation (BMT) in first complete remission (CR) were compared with matched controls with postremission chemotherapy (CT-MC). CT-MC were selected from 250 non-grafted patients with a minimum of remission duration corresponding to the median in...

    journal_title:Klinische Padiatrie

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1055/s-2007-1025355

    authors: Creutzig U,Bender-Götze C,Klingebiel T,Ebell W,Friedrich W,Stollmann-Gibbels B,Schmidt H,Suttorp M,Gratwohl A,Heyen P

    更新日期:1992-07-01 00:00:00

  • Does megatherapy contribute to survival in metastatic neuroblastoma? A retrospective analysis. German Cooperative Neuroblastoma Study Group.

    abstract::To evaluate the impact of megatherapy on the outcome of high risk neuroblastoma, 39 patients with stage IV neuroblastoma, who underwent megatherapy, were analyzed retrospectively and compared to 49 patients, who continued chemotherapy according to the German cooperative trial NB85. The groups were comparable concernin...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1043950

    authors: Hero B,Kremens B,Klingebiel T,Bender-Götze C,Burdach S,Schrappe M,Berthold F

    更新日期:1997-07-01 00:00:00

  • [Dimenhydrinate overdosage in a 3(1/2) year-old-girl with dilative cardiomyopathy].

    abstract::Dimenhydrinate overdosage in a 3(1/2) year-old-girl with dilative cardiomyopathy. Dimenhydrinate (Vomex(R)) is frequently used in the treatment of sickness and vomiting. The symptoms of overdosage present like an anticholinergic syndrome. We report on the clinical findings of an intoxication with dimenhydrinate in a 3...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2007-984371

    authors: Girisch M,Hofbeck M,Rauch R,Apitz C,Sieverding L

    更新日期:2009-01-01 00:00:00

  • [Decrease in Group B Streptococcal Infections in Neonates: Analysis of Health Insurance Data 2005 to 2017].

    abstract:BACKGROUND:In the German guidelines for prophylaxis of group B streptococcal (GBS) early onset sepsis in neonates (EOS), GBS screening of all pregnant women has been recommended, but is not yet included in the Maternity Directives. Aim of the study was to identify temporal trends in incidence of EOS and their associati...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/a-1202-1758

    authors: Sorg AL,Obermeier V,Armann J,Klemme M,von Kries R

    更新日期:2021-01-01 00:00:00