[Neonatal form of a nonketotic hyperglycinemia in consanguinous parents].

Abstract:

:This is a report of the neonatal form of nonketotic hyperglycinemia with rapid progressing neurological symptoms, respiratory distress and seizures. The EEG pattern is characteristic, the ratio of cerebrospinal fluid to plasma glycine abnormally high. The result of cranial computerized tomography demonstrates also in our patient that nonketotic hyperglycinemia joins a growing list of inborn errors of metabolism associated with brain malformations. The consanguinity of parents supports the known autosomal recessive form of inheritance.

journal_name

Klin Padiatr

journal_title

Klinische Padiatrie

authors

Plöchl E,Rittinger O,Doringer E,Laubichler W

doi

10.1055/s-2007-1025473

subject

Has Abstract

pub_date

1991-11-01 00:00:00

pages

455-7

issue

6

eissn

0300-8630

issn

1439-3824

journal_volume

203

pub_type

杂志文章
  • [Bacterial pathogens, resistance patterns and treatment options in community acquired pediatric urinary tract infection].

    abstract:BACKGROUND:Epidemiology and resistance patterns of bacterial pathogens in pediatric UTI show large interregional variability and rates of bacterial resistances are changing due to different antibiotic treatment. We intended to evaluate data from northern Germany. PATIENTS AND METHODS:In 100 children (53 female, 47 mal...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2004-823143

    authors: Pape L,Gunzer F,Ziesing S,Pape A,Offner G,Ehrich JH

    更新日期:2004-03-01 00:00:00

  • Protein supplementation of human milk for the nutrition of VLBW-infants: human milk protein vs. meat protein hydrolysate.

    abstract::In 25 very low birth weight infants appropriate for gestational age the influences of different human milk (HM) preparations on weight gain, gross indices of nitrogen metabolism and energy balance were studied during the second month of postnatal life. HM was fortified either by HM-protein (HMP) or by an enzymatic mea...

    journal_title:Klinische Padiatrie

    pub_type: 临床试验,杂志文章

    doi:10.1055/s-2007-1025538

    authors: Boehm G,Senger H,Friedrich M,Müller DM,Beyreiss K

    更新日期:1990-09-01 00:00:00

  • Allogeneic hematopoietic stem cell transplantation in Glanzmann thrombasthenia complicated by platelet alloimmunization.

    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

    authors: Wiegering V,Winkler B,Langhammer F,Wölfl M,Wirbelauer J,Sauer K,Kobsar A,Meyer T,Strauss A,Bakchoul T,Eyrich M,Schlegel PG

    更新日期:2011-05-01 00:00:00

  • [NHL-BFM 90 therapy study in treatment of malignant non-Hodgkin's lymphoma in children and adolescents. Part 3: An intermediate term analysis of the B-NHL/B-ALL].

    abstract::The aims of trial NHL-BFM 90 for patients (pts) suffering from B-cell neoplasms are to prove whether: 1. Treatment for pts with complete resection can be reduced from 3 to 2 therapy courses; 2. Results for pts of stage III with large abdominal tumors can be improved by high dose (HD) chemotherapy; 3. Survival for pts ...

    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-2008-1046610

    authors: Reiter A,Schrappe M,Yakisan E,Sauter S,Ebell W,Zimmermann M,Hartmann W,Kremens B,Kuhn N,Claviez A

    更新日期:1994-07-01 00:00:00

  • [Prevention of cytomegalic inclusion disease in leukemia patients with a cytomegalovirus hyperimmune globulin preparation].

    abstract::In a randomised study the efficacy of a cytomegalic hyperimmune globulin preparation (CMV-HIGP) which had been treated with beta-propiolactone was analysed. The study included 85 patients with acute lymphoblastic leukemia (ALL) and Non-B-Non-Hodgkin-lymphoma (NHL) who were treated initially or underwent a relapse ther...

    journal_title:Klinische Padiatrie

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1055/s-2008-1026722

    authors: Gerein V,Kropp H,Schwabe D,Gussetis E,Langer B,Kornhuber B

    更新日期:1989-07-01 00:00:00

  • [Anaphylactic shock reaction following intravenous administration of 7S immunoglobulin in patients with hypogammaglobulinemia, especially in children with acute lymphoblastic leukemia (ALL)].

    abstract::Severe anaphylactic reactions were observed in 2 children, aged 2 and 14 years, with acute lymphocytic leukemia and a 12 month old infant with a functional T-cell defect after intravenous administration of a polyethyleneglycol (PEG)-treated immunoglobulin preparation. All 3 children suffered additionally from hypogamm...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1026802

    authors: Manzke H,Seifert J

    更新日期:1987-07-01 00:00:00

  • Concomitant pilomatrixoma and peripheral schwannoma in a child.

    abstract:BACKGROUND:Peripheral schwannomas and pilomatrixoma are rare clinical features in childhood. The concomitant presence of these tumors in childhood are not described yet. PATIENTS:We describe the first case of a concomitant peripheral benign schwannoma and pilomatrixoma located at the head in a 10-year-old female patie...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2004-816279

    authors: Bittmann S,Ulus H

    更新日期:2005-01-01 00:00:00

  • [Introduction and critical comparison of clinical scores for characterizing the degree of morbidity of patients with cystic fibrosis].

    abstract::Scoring systems for evaluation of the degree of severity in patients with cystic fibrosis are critically evaluated. Cross-sectional comparison of Shwachman's score, Cooperman's score, Taussig-NIH score, Bernese score and Huang score reveals that advantages and disadvantages of each score exist. In early days used as a...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章,评审

    doi:10.1055/s-2007-1025188

    authors: Schöni MH

    更新日期:1993-01-01 00:00:00

  • [Combined treatment strategy in over 200 children with Hodgkin's disease: graduated chemotherapy, involved field irradiation with low dosage and selective splenectomy. A report of the cooperative therapy study DAL-HD-82].

    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

    authors: Schellong G,Brämswig J,Ludwig R,Gerein V,Jobke A,Jürgens H,Kabisch H,Stollmann B,Weinel P,Gadner H

    更新日期:1986-05-01 00:00:00

  • [Progress in the therapy of children with congenital hemolytic anemias by transfusion of neocyte concentrations. Initial experiences in the separation and transfusion of young erythrocytes, obtained with the cell separator Fenwal CS-3000].

    abstract::Transfusion-induced hemochromatosis remains a major therapeutic complication in the management of patients with chronic hemolytic anemias. Red cell units harvested with blood cell separators have an average estimated mean cell age of 30 days, compared to 60 days for unfractionated blood. Our initial experience with tr...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1033936

    authors: Heim MU,Eckstein R,Mittermüller H,Haas RJ,Schmidt P,Graebner E,Pape W,Mempel W

    更新日期:1985-03-01 00:00:00

  • Probiotics for prevention of necrotising enterocolitis: an updated meta-analysis.

    abstract::Several randomized controlled trials (RCTs) have investigated the prophylactic use of probiotics in preterm infants aimed at reducing the rate of necrotising enterocolitis (NEC). There are 4 meta-analyses on this subject. 2 more RCTs have been published since these meta-analyses were completed. Each meta-analysis, as ...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章,meta分析

    doi:10.1055/s-0030-1254113

    authors: Guthmann F,Kluthe C,Bührer C

    更新日期:2010-09-01 00:00:00

  • [Malignant testicular tumors in children and adolescents: concept of the MAHO 82 cooperative therapeutic study of the Society for Pediatric Oncology].

    abstract::The German Society of Pediatric Oncology (GPO) designed a cooperative study to improve the outlook of patients with malignant (testicular) germ cell tumors. According to stage and histology of the tumor different surgical approaches to retroperitoneal lymphadenectomy are suggested. Local radiotherapy is not recommende...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1034068

    authors: Haas RJ,Brämswig J,Göbel U,Harms D,Janka G,Weissbach L

    更新日期:1983-05-01 00:00:00

  • Risk Factors Associated with Intraventricular Hemorrhage in Preterm Infants with ≤28 Weeks Gestational Age.

    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

    authors: Waitz M,Nusser S,Schmid MB,Dreyhaupt J,Reister F,Hummler H

    更新日期:2016-09-01 00:00:00

  • [Neurenteric cyst of the mediastinum--case report and review of the literature].

    abstract::A case of an infant with a mediastinal neurenteric cyst is used to review this rare entity. By definition a neurenteric cyst is the combination of an entodermal cyst with a vertebral dysplasia. Neurenteric cysts are located in the posterior mediastinum, preferentially on the right side. In a third of the patients thes...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1026749

    authors: Köster B,Emons D,Kunath U,Födisch HJ

    更新日期:1987-01-01 00:00:00

  • [Increased incidence of developmental hip dysplasia in hypertrophic newborn infants].

    abstract::"Lack of space" in utero is considered to be a major factor in the aetiology of the congenital dislocation of the hip. This study tries to answer the question whether hypertrophy of a newborn has to be regarded as a risk factor on the basis of the principle mentioned above. The results of postnatal clinical and sonogr...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2007-1025256

    authors: Peschgens T,Skopnik H,Casser HR,Rauschning-Sikora K,Heimann G

    更新日期:1993-11-01 00:00:00

  • [Antacids for postoperative prevention of stress ulcer in infants: a dose finding study].

    abstract:UNLABELLED:In the prophylaxis of stress ulcers with antacids in young infants there are no recommendations of dosages that consider the physiologic maturation of gastric acid secretion. During the first six month of life the amount of gastric acid secretion in relation to body weight and body surface area increases exp...

    journal_title:Klinische Padiatrie

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1055/s-2008-1043985

    authors: Kentrup H,Skopnik H,Wolter L,Engelhart W,Nauert C,Heimann G

    更新日期:1996-01-01 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

  • Reduced expression and defective modulation of TNF receptor/ligand family molecules on proB-ALL blasts.

    abstract:BACKGROUND:There is a subgroup of pediatric patients with an immature immunophenotype of proB-ALL that still poses a therapeutic challenge, even if the overall prognosis in B cell precursor acute lymphoblasic leukemia (BCP-ALL) is very good. Due to impaired treatment response these patients are prone to suffer relapse ...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-0028-1086028

    authors: Troeger A,Glouchkova L,Escherich G,Siepermann M,Hanenberg H,Janka-Schaub G,Göbel U,Ackermann B,Dilloo D

    更新日期:2008-11-01 00:00:00

  • [Lumbar cisternography in the evaluation of hydrocephalus in premature infants].

    abstract::Radionuclide lumbar cisternography with 111In-DTPA was utilized as a bedside procedure to evaluate CSF dynamics and the patency of the ventricular system in 29 preterm infants with hydrocephalus. Serial images of the brain were obtained at 0, 1, 2, 6, 24 and 48 hours after instillation of the isotope in the lumbar sub...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1033955

    authors: Roloff DW

    更新日期:1985-03-01 00:00:00

  • [Treatment of chronic myeloid leukemia in children and adolescents--concept of the multicenter pilot study CML-ped].

    abstract::CML is a rare malignancy in childhood not yet being treated by an established protocol of the Society of Pediatric Oncology and Hematology (GPOH). Up to now only allogeneic bone marrow transplantation (BMT) offers a curative treatment option. After being enrolled into the study "CML-päd" patients with a matched siblin...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章,多中心研究

    doi:10.1055/s-2008-1046480

    authors: Suttorp M,Lion T,Creutzig U,Klingebiel T,Gadner H

    更新日期:1996-07-01 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

  • Simulation-based neonatal and infant resuscitation teaching: a systematic review of randomized controlled trials.

    abstract:BACKGROUND:Current resuscitation guidelines recommend the use of simulation-based medical education (SBME) as an instructional methodology to improve patient safety and health. We sought to investigate the evidence-base for the effectiveness of SBME for neonatal and pediatric resuscitation training. METHOD:Therefore, ...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章,评审

    doi:10.1055/s-0034-1372621

    authors: Mileder LP,Urlesberger B,Szyld EG,Roehr CC,Schmölzer GM

    更新日期:2014-09-01 00:00:00

  • [Glutaric acidemia/glutaric aciduria I as differential chorea minor diagnosis].

    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 dy...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2007-1025211

    authors: Voll R,Hoffmann GF,Lipinski CG,Trefz FK,Weisser J

    更新日期:1993-03-01 00:00:00

  • [Effectiveness and complications of percutaneous central venous catheters in neonatal intensive care].

    abstract::Low birth weight babies and sick full-term babies, who require total parenteral nutrition and repeated intravenous applications of drugs, which irritate peripheral veins, very often need a reliable central venous catheter. The aim of our paper was to study prospectively the efficiency and the complications of peripher...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1046574

    authors: Sterniste W,Vavrik K,Lischka A,Sacher M

    更新日期:1994-01-01 00:00:00

  • [Prevalence and Risk Factors of Myopia in Children and Adolescents in Germany - Results of the KiGGS Survey].

    abstract::Purpose To determine the population prevalence and risk factors of myopia in children and adolescents in Germany. Methods The prevalence of myopia in Germany was computed using data from the 2003-2006 German Health Interview and Examination Survey for Children and Adolescents (N=17 640, 49% girls). Status of myopia wa...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-0043-102938

    authors: Schuster AK,Elflein HM,Pokora R,Urschitz MS

    更新日期:2017-07-01 00:00:00

  • Diagnostic and therapeutic considerations on inherited platelet disorders in neonates and children.

    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

    authors: Schlegel N,Bardet V,Kenet G,Muntean W,Zieger B,Nowak-Göttl U,Working Group on Standardisation in Perinatal and Pediatric Hemostasis.

    更新日期:2010-05-01 00:00:00

  • [Achievement motivation in children with migraine and their healthy siblings].

    abstract:QUESTIONS:Psychosocial variables like stress or a high achievement motivation are discussed as a possible contributory factor to an attack in migraine. The aim of our study was to examine, whether children with migraine may be at risk for impaired achievement motivation. PATIENTS/METHODS:37 children with migraine and ...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2004-822810

    authors: Haverkamp F,Hönscheid A,Rünger M,Krois A,Harbauer A

    更新日期:2005-07-01 00:00:00

  • [Intracranial pressure increase following treatment nalidixic acid in a child aged 3 1/2 years (author's transl)].

    abstract::Neurological symptoms developed in a girl aged three-and-a-half years during treatment with nalidixic acid. The symptoms progressed even after the preparation had been discontinued, and culminated in the development of a transient intracranial pressure increase. ...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:

    authors: Lorenz R

    更新日期:1979-07-01 00:00:00

  • [Determination and clinical significance of colloid osmotic pressure in pediatric patients].

    abstract::The clinical significance of colloid osmotic pressure (COP) in transcapillary fluid exchange and water homeostasis in health and disease is described. Under pathophysiological circumstances measurement of COP should be preferred to COP value calculation. After extensive COP experiences in critically ill adults and num...

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    pub_type: 杂志文章

    doi:10.1055/s-2008-1034010

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    更新日期:1985-09-01 00:00:00

  • Bleeding and thrombosis in children with acute lymphoblastic leukaemia, treated according to the ALL-BFM-90 protocol.

    abstract::A multi-center retrospective survey was conducted to evaluate the incidence and types of hemostatic complications occurring in children with acute lymphoblastic leukemia (ALL) during treatment according to the ALL-BFM-90 treatment protocol. All of the BFM-treatment centers (n = 77) were approached and a 95% response r...

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    pub_type: 杂志文章,多中心研究

    doi:10.1055/s-2008-1043788

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    更新日期:1999-07-01 00:00:00