Abstract:
:Glutaracidemia/glutaraciduria type I is an acute or subacute neuropathic disorder of infancy or early childhood. The following symptoms characterize the clinical course: macrocephalus present at birth, cerebral atrophy revealed by CT or MRI scans, most striking in the frontal and temporal lobes, choreoathetosis and dystonia as neurological handicaps. The deficiency of glutaryl-CoA-dehydrogenase leads to glutaracidemia and glutaraciduria. It is reported on a three year old girl. The glutaraciduria is an important differential diagnosis to chorea minor.
journal_name
Klin Padiatrjournal_title
Klinische Padiatrieauthors
Voll R,Hoffmann GF,Lipinski CG,Trefz FK,Weisser Jdoi
10.1055/s-2007-1025211subject
Has Abstractpub_date
1993-03-01 00:00:00pages
124-6issue
2eissn
0300-8630issn
1439-3824journal_volume
205pub_type
杂志文章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
更新日期:1981-05-01 00:00:00
abstract::We present three cases of GC, one belonging to the brainstem, and two belonging to the hemisphere type. Two cases were investigated by MRI. Tumour infiltration, while yielding only vague CT findings, was well demonstrated in MR studies where extensive hyperintense lesions were found in T2- and proton density images. I...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2007-1025450
更新日期:1991-09-01 00:00:00
abstract::Iron concentration was determined by the aid of the ESA Ferrochem 3050 analyzer and the bathophenanthroline method with deproteinization. Both methods showed a good precision and accuracy. The investigation was carried out in 505 sera with an iron concentration between 9 and 333 micrograms/dl. The comparison of the tw...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1033773
更新日期:1982-01-01 00:00:00
abstract:OBJECTIVE:To identify obstetric and neonatal risk factors associated with the development of germinal matrix-intraventricular hemorrhage (GM-IVH) in high-risk preterm neonates. METHODS AND PATIENTS:Data from 279 preterm infants (246 mothers) with a gestational age≤28+0 weeks admitted to our NICU between January 2004 a...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0042-111689
更新日期:2016-09-01 00:00:00
abstract:BACKGROUND:For Thrombasthenia Glanzmann (GT) patients presenting with a severe clinical phenotype due to complete lack of thrombocyte function or increased titres of anti-platelet antibodies hematopoietic stem cell transplantation (SCT) is the only curative therapy. CASE REPORT:We report the case of a 13-month-old boy...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0031-1273726
更新日期:2011-05-01 00:00:00
abstract::The presented paper includes the medical records of five children with familial adenomatous polyposis coli on the one hand and the detailed description of the pathologic findings of the disease on the other hand. Particular emphasis is given to the morphologic criteria of the disorder predisposing the affected individ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1033975
更新日期:1985-05-01 00:00:00
abstract::We report of an previously unpublished combination of partial trisomy 9 and a membranous pulmonary atresia with a large conotruncal ventricular septal defect. The dystrophic female, term newborn presented after delivery with microcephaly, prominent nose and several other facial and skeletal deformities. The echocardio...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1043941
更新日期:1997-05-01 00:00:00
abstract:BACKGROUND:The survival of infants born with esophageal atresia (EA) is > 90% at present. The purpose of this study was to evaluate early complications and long term outcome in children with EA treated at our institution. METHODS AND PATIENTS:Retrospective analysis of 111 children with EA undergoing repair of EA or tr...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0030-1249610
更新日期:2010-09-01 00:00:00
abstract::The article describes the method of counter-current immunoelectrophoresis as a rapid and safe technique for the identification of bacterial antigens in body fluids. This technique has proved very useful especially in patients who had been pretreated with antibiotics, since the culture yields are usually negative in su...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1034426
更新日期:1981-01-01 00:00:00
abstract:BACKGROUND:Congenital heart disease is the most common cause of major congenital anomalies. After prenatal diagnosis effective counseling is crucial. However, little research has been undertaken in determining the most effective techniques. OBJECTIVES:To develop a questionnaire suitable to assess parental needs for co...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/a-0633-3331
更新日期:2018-09-01 00:00:00
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
更新日期:2007-07-01 00:00:00
abstract::340 consecutive patients with neuroblastoma stage IV were analyzed for the possible impact of chemotherapy on general condition, remission status, event free survival and survival. The children entered the trials NB 79, NB 82 and NB 85 of the German Pediatric Oncology Society (GPO). The patients did benefit from chemo...
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-2007-1025531
更新日期:1990-07-01 00:00:00
abstract::Carcinomas of the plexus choroideus (PCC) represent the rare malignant variety of plexus choroideus papillomas and take a particularly unfavourable course. Tumors of the plexus choroideus account for about 2-4% of all primary brain tumors in children and 0.5% of those in adults. The PCC is more frequent in children th...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,评审
doi:10.1055/s-2008-1046511
更新日期:1995-03-01 00:00:00
abstract::Meconium ileus equivalent (MIE) complicating cystic fibrosis of the pancreas (CF) increases in frequently with increasing age of patients. In the present paper the course of 11 children and adolescents with MIE diagnosed and treated at the University Dept. of Paediatrics in Zürich during the last 15 years, i.e. 9% of ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1034390
更新日期:1983-09-01 00:00:00
abstract:BACKGROUND:Drug handling in paediatric intensive care units (PICU) is prone to medication errors. We aimed to identify type and prevalence of those errors and to assess preventative interventions. METHODS:Prospective intervention study investigating a 3-step intervention for preventing errors in drug handling in a 10-...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0033-1364030
更新日期:2014-04-01 00:00:00
abstract::Five patients with arteriovenous angiomas in the head (2 galea angiomas, 1 mixed form with extracranial and intracranial localization of the arteriovenous fistulas and 2 intracranial arteriovenous fistulas) were described. Four patients were examined as newborns or infants. Oximetric data, intracardial pressure and ci...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1976-05-01 00:00:00
abstract::Inherited disorders of platelets constitute a group of rare diseases that give rise to bleeding syndromes of variety severity, with more severe cases being first diagnosed during infancy and childhood. To appropriate diagnose a platelet function disorder during early childhood the knowledge of the physiological charac...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0030-1249065
更新日期:2010-05-01 00:00:00
abstract:UNLABELLED:We present updated results of stem cell transplantation with highly purified stem cells from haploidentical parental donors and infection with human adenovirus (HAdV) post stem cell transplantation (SCT). Survival post SCT is primarily determined by relapse, infections and far less by GvHD or other transplan...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2005-872530
更新日期:2005-11-01 00:00:00
abstract::Possibilities of recognizing cerebral function disturbances in newborns as early as the acute phase of the condition, and of prognosticating permanent brain damage are described. Clinical findings such as lethargy or spasms in the second and third weeks of life following hypoxia indicate severe function disturbances w...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,评审
doi:10.1055/s-2008-1034092
更新日期:1984-11-01 00:00:00
abstract::Report of a case of the fetal face syndrome associated with severe oligophrenia and septum pellucidum cyste in a male patient aged 30 years. The case demonstrates the good prognosis of the hypogenitalism resp. small genitalia; the correct diagnosis in this syndrome can the patients save a plastic of the penis. ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1046568
更新日期:1995-11-01 00:00:00
abstract:BACKGROUND:Modern neonatal and pediatric intensive care includes a sophisticated pharmacotherapy with numerous drugs, mainly administered intravenously. Often, despite the use of multi-lumen central venous lines, more peripheral venous accesses are required. To reduce the necessity of numerous venous lines on one hand ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2005-836937
更新日期:2007-01-01 00:00:00
abstract::A paralysis of the left vocal cord was seen by laryngoscopy in a 3-days-old boy with inspiratory stridor. A ductus aneurysm was established by angiocardiography, which was believed to be the cause of the vocal cord paralysis. Within 8 days after the angiocardiography the aneurysm became smaller and the stridor disappe...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1026854
更新日期:1986-01-01 00:00:00
abstract:BACKGROUND: Despite a reduction in hospitalizations due to acute alcohol intoxication in minors, alcohol consumption among children and adolescents still presents an alarming social and clinical phenomenon. This is amplified by presumably more severe clinical symptoms of the alcohol intoxication in children and adoles...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/a-1186-2155
更新日期:2020-09-01 00:00:00
abstract::In case of painful scoliosis, a search for etiologic factors in the vertebral spinal canal and adjacent structures should be made. MRI with Gadolinium is useful to look for various pathology in and around the spine in particular of spinal cord. CT scanning is indispensible for bony details. Thus CT and MRI are complem...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,评审
doi:10.1055/s-2008-1043932
更新日期:1997-03-01 00:00:00
abstract::The increasing importance of radiotherapy in tumor of childhood demands the investigation and consideration of the psychological aspects of this afflicting therapy. In this paper the results obtained by questioning and observing 28 children of different ages, their parents, attendants and employees of several radiolog...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1034457
更新日期:1981-05-01 00:00:00
abstract:BACKGROUND:We wanted improve the nutritional status of patients with cystic fibrosis with enteral feeding via a percutaneous endoscopic gastrostomy (PEG). PATIENTS AND METHODS:In a period of 8 years 11 patients underwent a percutaneous endoscopic gastrostomy (PEG), 4 males and 7 females, in the median 14,9 years of ag...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2001-18460
更新日期:2001-11-01 00:00:00
abstract:BACKGROUND:Intrauterine growth restriction seems to be a risk factor for an aggravated course of secondary renal diseases in children. Catch-up growth after birth may play a critical role. We tested if there is an association between an aggravated course of nephritis in Henoch-Schönlein Purpura (PSHN) and low birth wei...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0030-1263135
更新日期:2010-12-01 00:00:00
abstract::The progression of alimentary fatty liver to liver cirrhosis is a very rare observation. During the year after surgical extirpation of a suprasellar craniopharyngioma in a seven years old boy developed severe obesity and again six years later at autopsy a complete liver cirrhosis with fatty liver was established. Inju...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1046584
更新日期:1994-01-01 00:00:00
abstract:UNLABELLED:It was the aim of the cooperative therapy study HD-82 for children with Hodgkin's disease to reduce chemo- and radiotherapy and to investigate of a strategy for selective splenectomy previously developed in the Hodgkin study HD-78. Between December 1981 and December 1984 207 patients (131 boys and 76 girls) ...
journal_title:Klinische Padiatrie
pub_type: 临床试验,杂志文章
doi:10.1055/s-2008-1026870
更新日期:1986-05-01 00:00:00
abstract::Interferons are components of the nonspecific defense system. Their most prominent biological roles are the antiviral, the antiproliferative, and the immunoregulatory activities. However, their primary functions within the organism remains to be determined. Three types of IFNs have been described so far (IFN alpha, IF...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1033980
更新日期:1985-07-01 00:00:00