Abstract:
:A 22 years old female with the late-onset of argininosuccinic aciduria was successfully treated for 5 months with a mixture of essential amino acids and their keto-analogues. There was a marked change in plasma ammonia, plasma amino acids and argininosuccinic acid excretion. A long term anabolic response was reflected by an increase of total serum proteins and serum albumin by about 1 g/dl during the first 5 months of treatment. There was a striking improvement in the patient's seizure disorder following institution of the keto-analogue therapy.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Böhles H,Heid H,Harms D,Schmid D,Fekl Wdoi
10.1007/BF00445607subject
Has Abstractpub_date
1978-07-19 00:00:00pages
225-33issue
4eissn
0340-6199issn
1432-1076journal_volume
128pub_type
杂志文章abstract:UNLABELLED:We examined published studies from the United States, Europe, and Latin America to better understand geographic and temporal variability in the epidemiology of invasive pneumococcal disease (IPD) in young children. A comparison of IPD incidence levels reported for children <5 years of age within the United S...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-002-1066-x
更新日期:2002-12-01 00:00:00
abstract::The traditional recommendation that Swiss children receive vitamin D during the first year of life was recently extended to the second and third year of life and during winter for older children. The aim of the study was to identify how Swiss pediatricians prescribe vitamin D. Between December 2016 and March 2017, 795...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-019-03400-0
更新日期:2019-07-01 00:00:00
abstract::A technetium-99m pertechnetate Meckel scan is the standard diagnostic test to diagnose Meckel diverticulum. Although a negative scan does not exclude Meckel diverticulum, it should be kept in mind that the diagnosis can be missed on the basis of a single negative scan. Another important point is the typical position o...
journal_title:European journal of pediatrics
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更新日期:2009-12-01 00:00:00
abstract::Chylothorax is defined as an effusion of lymph in the pleural cavity. In the neonate both congenital and traumatic (iatrogenic) forms exist. Birth asphyxia and respiratory insufficiency are major symptoms of congenital chylothorax, requiring resuscitation and artificial ventilation. Antenatal diagnosis by ultrasound a...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02072505
更新日期:1993-01-01 00:00:00
abstract::We report a patient with the characteristic features of the brittle cornea syndrome, a rare, autosomal recessively inherited disorder, namely brittle corneae, blue sclerae, and red hair. The patient also showed joint hyperextensibility, a soft skin, and dysplastic auricles with unusually soft cartilage. Phenotypically...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01959396
更新日期:1990-04-01 00:00:00
abstract::The burden of community-acquired pneumonia (CAP) in high-income countries is still significant. The introduction of pneumococcal conjugate vaccines (PCV) has reduced the overall need for hospitalization for CAP. However, it is not clear whether children with underlying disease also have benefitted from the PCV immuniz...
journal_title:European journal of pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1007/s00431-016-2843-2
更新日期:2017-03-01 00:00:00
abstract::We describe here an infant with a large, solitary, fluid-filled lung cyst and hyperinflation of adjacent lung tissue in the same lobe. The combination of a fluid-filled cyst and ectatic emphysema in the same lobe suggests bronchial collapse and airway obstruction as a contributory mechanism for this unusual roentgenog...
journal_title:European journal of pediatrics
pub_type: 杂志文章
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abstract::A case of subacute meningitis caused by Brucella mellitensis is described. The meningitis was refractory to an antibiotic regime. Diagnosis was established by raised antibody titres to Brucella in serum and cerebrospinal fluid (CSF) and positive bone marrow and blood cultures. While treatment with tetracycline trimeth...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00445917
更新日期:1988-11-01 00:00:00
abstract::Neonatal stroke is a diverse clinical entity. Terminology and aetiology described in the literature are very varied. While numerous risk factors are cited, only few case-control studies have investigated them in a systematic fashion. This equipoise extends to the investigational and management profile of perinatal str...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
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abstract::To determine the relationship between total serum bilirubin (TSB) during the first 2 days of life and subsequent neonatal morbidity in very low birth weight (VLBW, less than 1500 g) infants. We performed a prospective study of 582 VLBW infants born between July 1, 2005 and December 31, 2009. TSB was measured in umbili...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-011-1634-z
更新日期:2012-04-01 00:00:00
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journal_title:European journal of pediatrics
pub_type: 临床试验,杂志文章,随机对照试验
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更新日期:1987-03-01 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
pub_type: 杂志文章
doi:10.1007/s004310000652
更新日期:2001-02-01 00:00:00
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journal_title:European journal of pediatrics
pub_type: 杂志文章
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更新日期:2016-12-01 00:00:00
abstract::The clinical presentation of combined pituitary hormone deficiency (CPHD) is variable. Some patients present with hypoglycemia during the neonatal period or during the first few years of life. Others present later in childhood with growth failure. We report on 7 patients with very late diagnosed severe hypopituitarism...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-019-03489-3
更新日期:2020-01-01 00:00:00
abstract::The etiology of asthma includes lifestyle factors. Breastfeeding and introduction of complementary foods have been suggested to affect asthma risk, but the scientific foundation is not solid. Children from the birth cohort All Babies In Southeast Sweden study were included (n = 9727). Breastfeeding duration and timing...
journal_title:European journal of pediatrics
pub_type: 杂志文章
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journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02029352
更新日期:1995-06-01 00:00:00
abstract:UNLABELLED:To monitor infant care practices associated with risks for sudden infant death, 400 Belgian families with infants less than 6 months old were questioned by 21 paediatricians during routine visits to local paediatric practices and well baby services (11 in urban centres, 10 in rural areas). Because of incompl...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310100783
更新日期:2001-08-01 00:00:00
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journal_title:European journal of pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1007/s00431-008-0859-y
更新日期:2009-08-01 00:00:00
abstract::Specialist paediatric services manage a variety of presentations of functional somatic symptoms. We aimed to describe the presentation and management of children and adolescents with somatic symptom and related disorders (SSRDs) requiring admission to a tertiary children's hospital with the objective of informing the ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
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abstract:UNLABELLED:The aim of this study was to develop an index that estimates late childhood obesity risk based on certain perinatal and family sociodemographic characteristics. The study was cross-sectional with retrospectively collected data from a representative sample of 2,294 primary schoolchildren, aged 9-13 years, in ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-012-1918-y
更新日期:2013-04-01 00:00:00
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journal_title:European journal of pediatrics
pub_type: 杂志文章
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journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
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更新日期:2012-10-01 00:00:00
abstract::Severe complications due to Shigatoxin-associated hemolytic uremic syndrome (STEC-HUS) currently present a serious challenge since no specific treatment for this condition is available. Eculizumab, a terminal complement inhibitor, has been used especially in STEC-HUS patients with severe neurological involvement, but ...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
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更新日期:2018-03-01 00:00:00
abstract::Necrotizing enterocolitis (NEC) is usually considered to be a neonatal disease, and is rarely described beyond the newborn period. During the last 15 years, 19 infants from the Negev region, Israel, with NEC were beyond the neonatal age group (range = 34-616 days, median = 90 days). Of this group only 16% were born pr...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442592
更新日期:1984-04-01 00:00:00
abstract::Vitamin D has attracted considerable interest in recent years, with a marked increase in diagnosis of vitamin D deficiency seen among children in clinical practice in the UK. The economic implications of this change in diagnostic behaviour have not been explored. We performed a cohort study to examine longitudinal tre...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-017-2986-9
更新日期:2017-10-01 00:00:00
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journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-011-1532-4
更新日期:2012-01-01 00:00:00
abstract::This parallel randomized controlled trial was aimed to evaluate whether parameters as physical fitness, reaction times, self-perception and enjoyment levels, as well as parental and children perspectives, were affected by active video games in inactive and technologically preoccupied children. Data were collected in a...
journal_title:European journal of pediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1007/s00431-019-03457-x
更新日期:2019-10-01 00:00:00
abstract::The total height gain was studied in 19 adult male subjects with non-tumorous hypopituitarism after they had been treated with human growth hormone (hGH) for more than 3 years and achieved final adult height. In patients with a history of breech delivery or severe perinatal asphyxia, a high multiple correlation was fo...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442688
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journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-005-1626-y
更新日期:2005-05-01 00:00:00
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journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/pl00008340
更新日期:2000-10-01 00:00:00