Hyperphenylalaninaemia due to dihydropteridine reductase deficiency.

abstract：:It is rare that coloboma, heart anomalies, choanal atresia, retarded growth and development, and genital and ear anomalies (CHARGE) syndrome patients have DiGeorge sequence showing severe immunodeficiency due to the defect of the thymus. Although the only treatment to achieve immunological recovery for these patients ...

journal_title：European journal of pediatrics

authors： Inoue H,Takada H,Kusuda T,Goto T,Ochiai M,Kinjo T,Muneuchi J,Takahata Y,Takahashi N,Morio T,Kosaki K,Hara T

更新日期：2010-07-01 00:00:00

abstract：UNLABELLED:A retrospective analysis was performed of the records of 133 patients with extrahepatic biliary atresia (EHBA) who had undergone a Kasai portoenterostomy. The patients were divided into a non-transplantation group who survived but did not receive liver transplantation after the procedure and a failure group ...

journal_title：European journal of pediatrics

authors： Jiang CB,Lee HC,Yeung CY,Sheu JC,Chang PY,Wang NL,Yeh CY

更新日期：2003-09-01 00:00:00

abstract：:To increase our knowledge of the clonal relationship of leukaemia relapse, the genotypes and phenotypes of ten children with acute lymphoblastic leukaemia (ALL) were examined at initial diagnosis and relapse. Seven patients were phenotyped as common ALL, two as mixed, and one as T-cell ALL (T-ALL). Comparative analyse...

journal_title：European journal of pediatrics

authors： Raghavachar A,Ludwig WD,Bartram CR

更新日期：1988-06-01 00:00:00

abstract：:This was the first study to characterize the total burden of rotavirus gastroenteritis (RVGE) at both hospital and general physician (GP) clinics in Denmark, and also the first to confirm rotavirus (RV) as the leading cause of acute gastroenteritis (GE) among children <5 years in GP clinics nationwide. Several aspects...

journal_title：European journal of pediatrics

authors： Hoffmann T,Iturriza M,Faaborg-Andersen J,Kraaer C,Nielsen CP,Gray J,Hogh B

更新日期：2011-12-01 00:00:00

abstract：:Two children with congenital cytomegalovirus infection and intracerebral echogenicities were investigated by computer sonography and colour Doppler imaging (CDI). By simultaneous imaging of brain tissue and CDI, blood flow within the stripe-like echogenicities of the basal ganglia was demonstrated. Using CDI the echog...

journal_title：European journal of pediatrics

authors： Ries M,Deeg KH,Heininger U

更新日期：1990-11-01 00:00:00

abstract：UNLABELLED:Patients with glycogen storage disease type 1b (GSD1b) not only show hepatomegaly, hypoglycaemia and lactic acidosis, but also neutropenia and neutrophil dysfunction. Here, we report improvement of neutropenia and neutrophil function in a 22-year-old male GSD1b patient who had undergone living-related partia...

journal_title：European journal of pediatrics

authors： Adachi M,Shinkai M,Ohhama Y,Tachibana K,Kuratsuji T,Saji H,Maruya E

更新日期：2004-04-01 00:00:00

abstract：:The effects of perinatal problems on red cell phosphate metabolism were studied in two groups of infants (preterms B and fullterms D) during the first month of life. All infants started milk feeding from day three after birth. The results were compared to those of healthy preterms (A) and fullterms (C), respectively. ...

journal_title：European journal of pediatrics

authors： Cholevas V,Challa A,Lapatsanis PD,Andronikou S

更新日期：2008-02-01 00:00:00

abstract：UNLABELLED:A regional surveillance study was carried out in children with recurrent acute otitis media (AOM) to determine the antimicrobial susceptibility of three common AOM pathogens. Susceptibility to relevant antimicrobial agents was determined on 149 Streptococcus pneumoniae, 246 Haemophilus influenzae and 119 Mor...

journal_title：European journal of pediatrics

authors： van Kempen MJ,Vaneechoutte M,Claeys G,Verschraegen GL,Vermeiren J,Dhooge IJ

更新日期：2004-09-01 00:00:00

abstract：:By the description of two cases of osteoarticular infections due to Kingella kingae in two young children we wish to draw the attention of clinicians to invasive infections due to this micro-organism. Since its biological characterization in 1976, K. kingae has been increasingly reported as a human pathogen. Most comm...

journal_title：European journal of pediatrics

authors： Lacour M,Duarte M,Beutler A,Auckenthaler R,Suter S

更新日期：1991-07-01 00:00:00

abstract：:This paper describes the design of a study to follow the development of boys and girls in secondary schools from the age of 12 through 17 on an annual basis, in order to acquire more information concerning the growth and development of teenagers. In this study, both physical and psychological characteristics are measu...

journal_title：European journal of pediatrics

authors： Kemper HC,van 't Hof MA

更新日期：1978-10-12 00:00:00

abstract：:We studied, in vitro, different commercially available components for pneumothorax drainage, i.e. drainage tubes, Heimlich flutter valve and vacuum control units. The drainage of a pneumothorax by a drainage tube was, as expected, directly dependent on Poiseuille's law and was influenced more by diameter than length. ...

journal_title：European journal of pediatrics

authors： Bakker JC,Liem M,Wijnands JB,Karsdon J,Berger HM

更新日期：1989-10-01 00:00:00

abstract：UNLABELLED:A formerly premature, exclusively breast-fed infant with severe zinc deficiency syndrome is presented. He showed the characteristic erosive skin changes, including alopecia, as seen in acrodermatitis enteropathica. In addition, he manifested a failure to thrive and irritability. The diagnosis was confirmed b...

journal_title：European journal of pediatrics

authors： Heinen F,Matern D,Pringsheim W,Leititis JU,Brandis M

更新日期：1995-01-01 00:00:00

abstract：:Polyarteritis nodosa (PAN) is a non-frequent vasculitis of small- and medium-sized vessels. Psoriatic arthritis (PA) is described as a "unique inflammatory arthritis associated with psoriasis" with an inexact prevalence rate due to the lack of widely accepted classification criteria. We describe the case of an 11-year...

journal_title：European journal of pediatrics

authors： Oulego-Erroz I,Gautreaux-Minaya S,Martinez-Sáenz de Jubera J,Naranjo-Vivas D,Fernéndez-Hernández S,Muñíz-Fontán M

更新日期：2011-09-01 00:00:00

abstract：:The name of the co-author Wendy J. Ungar was inadvertently omitted on the original published article. Her name and affiliation have now been added to the author list. ...

journal_title：European journal of pediatrics

authors： Blanken MO,Frederix GW,Ungar WJ,Nibbelke EE,Koffijberg H,Sanders EAM,Rovers MM,Bont L,Dutch RSV Neonatal Network.

更新日期：2020-02-01 00:00:00

abstract：UNLABELLED:A 14-year-old boy developed acute quadriplegia, associated with sensory impairment and bowel and urinary dysfunction. MRI of the cervical cord showed diffuse increased signal intensity on T2-weighted images with gadolinium-diethylenetriamine penta-acetic acid enhancement. Based on the clinical presentation a...

journal_title：European journal of pediatrics

authors： Takahashi S,Miyamoto A,Oki J,Azuma H,Okuno A

更新日期：1995-05-01 00:00:00

abstract：:Two regimens of steroid treatment for the initial attack of idiopathic nephrotic syndrome (NS) in children were compared in a controlled prospective multi-centre study. Long prednisone therapy consisted of 60 mg/m2 per 24 h for 6 weeks, followed by alternate day 40 mg/m2 per 48 h for 6 weeks. The standard prednisone t...

journal_title：European journal of pediatrics

authors： Ehrich JH,Brodehl J

更新日期：1993-04-01 00:00:00

abstract：:Indomethacin treatment for 1 week monitored by drug level determinations was evaluated in 32 preterm infants with symptomatic patent ductus arteriosus (sPDA). Inter- and intra-individual indomethacin dispositions varied considerably with the need for marked dosage adjustments to maintain the drug level within the prop...

journal_title：European journal of pediatrics

authors： Leonhardt A,Isken V,Kühl PG,Seyberth HW

更新日期：1987-03-01 00:00:00

abstract：:In our clinic the decision on whether to continue with dietary treatment of phenylketonuria or not is left to each adolescent and adult patient after the advantages and disadvantages, as discussed in this paper, of continuing diet have been presented to them. As a result 61 of 132 patients have stopped diet or decline...

journal_title：European journal of pediatrics

authors： Brenton DP,Tarn AC,Cabrera-Abreu JC,Lilburn M

更新日期：1996-07-01 00:00:00

abstract：:The fatty acid status of an unselected group of 84 Congolese children was determined by estimating the fatty acid composition of the plasma phospholipid (PL) and cholesterolester (CE) fractions using capillary gas chromatography. In comparison with North American and European children a wide range of values and low me...

journal_title：European journal of pediatrics

authors： Leichsenring M,Doehring-Schwerdtfeger E,Laryea MD,Diamouangana J,Bremer HJ

更新日期：1988-11-01 00:00:00

abstract：:Despite being one of the most common congenital defects in boys, the etiology of hypospadias remains largely unknown. In this case-referent study, we evaluated a wide spectrum of potential risk factors for hypospadias. Cases were identified from the hospital information system, and referents were recruited through the...

journal_title：European journal of pediatrics

authors： Brouwers MM,Feitz WF,Roelofs LA,Kiemeney LA,de Gier RP,Roeleveld N

更新日期：2007-07-01 00:00:00

abstract：UNLABELLED:Administration of human growth hormone (GH) has yielded conflicting results concerning its role on thyroid function in patients with Ullrich-Turner syndrome. Therefore, we investigated the course of thyroid hormone parameters and thyroxin binding globulin in relation to GH therapy, IGF-I and additional oxand...

journal_title：European journal of pediatrics

authors： Schmitt K,Häusler G,Blümel P,Plöchl E,Waldhör T,Frisch H

更新日期：1997-02-01 00:00:00

abstract：:The concentration of mRNA of insulin-like growth factor-II is (IGF-II) much elevated in some embryonic tumours such as Wilms tumour (nephroblastoma). In order to prove whether or not IGF-II is produced by the tumour tissue, IGF-II was extracted from freshly frozen tissue of Wilms tumour and hepatoblastoma. Normal adja...

journal_title：European journal of pediatrics

authors： Ren-Qiu Q,Ruelicke T,Hassam S,Haselbacher GK,Schoenle EJ

更新日期：1993-02-01 00:00:00

abstract：:Respiratory syncytial virus (RSV) infection is one of the main causes of infant hospitalization and mortality. The single-stranded RNA virus codes for 11 proteins of which the F protein, a surface epitope responsible for RSV fusion, is the most targeted for developing antiviral medicines and vaccines. The peak of symp...

journal_title：European journal of pediatrics

authors： Xing Y,Proesmans M

更新日期：2019-02-01 00:00:00

abstract：:Patients suffering from a mitochondrial (encephalo-)myopathy have a remarkable clinical heterogeneity. A reliable and extensive investigation must be performed in order to obtain a correct diagnosis, but many factors may influence the ultimate results of these investigations leading, under certain circumstances, to an...

journal_title：European journal of pediatrics

authors： Trijbels JM,Scholte HR,Ruitenbeek W,Sengers RC,Janssen AJ,Busch HF

更新日期：1993-03-01 00:00:00

abstract：:We describe a female infant with the Schinzel-Giedion syndrome. Features present in 11 patients include coarse face, midface retraction, urogenital anomalies, poor skull vault mineralisation and variable anomalies of the long bones. Outcome is poor and mental retardation is the rule among survivors. Prenatal diagnosis...

journal_title：European journal of pediatrics

authors： Verloes A,Moës D,Palumbo L,Elmer C,François A,Bricteux G

更新日期：1993-05-01 00:00:00

abstract：:Bone health is extremely important in early childhood because children with low bone mineral density (BMD) are at a greater risk of bone fractures. While physical activity and intake of both calcium and vitamin D benefit BMD in older children, there is limited research on the determinants of good bone health in early ...

journal_title：European journal of pediatrics

authors： McVey MK,Geraghty AA,O'Brien EC,McKenna MJ,Kilbane MT,Crowley RK,Twomey PJ,McAuliffe FM

更新日期：2020-01-01 00:00:00

abstract：UNLABELLED:Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disorder in which haemolytic anaemia is the major symptom. The Beutler spot test employed in mass-screening for galactosaemia in newborns requires several intrinsic erythrocyte enzymes such as G6PD for its reaction and can theoretic...

journal_title：European journal of pediatrics

authors： Okano Y,Fujimoto A,Miyagi T,Hirono A,Miwa S,Niihira S,Hirokawa H,Yamano Y

更新日期：2001-02-01 00:00:00

abstract：:Spontaneous pneumomediastinum is uncommon in paediatric practice. We describe two cases of spontaneous pneumomediastinum in a child and an adolescent with anorexia nervosa. Thorough investigation failed to reveal any underlying cause for secondary pneumomediastinum. Pneumomediastinum in anorexia nervosa can be caused ...

journal_title：European journal of pediatrics

authors： van Veelen I,Hogeman PH,van Elburg A,Nielsen-Abbring FW,Heggelman BG,Mahieu HF

更新日期：2008-02-01 00:00:00

abstract：UNLABELLED:Human parechoviruses (HPeV) have been recently recognized as important viral agents in paediatric infections. The aims of this study were to investigate the HPeV infection prevalence in infants <1 month in Spain and, secondly, to analyse the clinical and epidemiological characteristics of the infected patien...

journal_title：European journal of pediatrics

authors： Cabrerizo M,Trallero G,Pena MJ,Cilla A,Megias G,Muñoz-Almagro C,Del Amo E,Roda D,Mensalvas AI,Moreno-Docón A,García-Costa J,Rabella N,Omeñaca M,Romero MP,Sanbonmatsu-Gámez S,Pérez-Ruiz M,Santos-Muñoz MJ,Calvo C,study

更新日期：2015-11-01 00:00:00

abstract：BACKGROUND:The severity of childhood gastroenteritis is generally believed to be age-related rather than aetiology-related. Rotavirus-induced gastroenteritis is more severe than gastroenteritis caused by other enteric pathogens and is also age-related. We thus addressed the question of whether the increased severity of...

journal_title：European journal of pediatrics

authors： Albano F,Bruzzese E,Bella A,Cascio A,Titone L,Arista S,Izzi G,Virdis R,Pecco P,Principi N,Fontana M,Guarino A

更新日期：2007-03-01 00:00:00