P1343
Congenital alveolar proteinosis caused by a novel mutation of the surfactant protein B gene and misalignment of lung vessels in consanguineous kindred infantsSevere metformin intoxication with lactic acidosis in an adolescentClinical practice. The care of children with Down syndromeWhat’s new in autism?Salivary protein profiles are linked to bitter taste acceptance in infantsPituitary dwarfism in the R271W Pit-1 gene mutationFamilial hyperproinsulinaemia due to a mutation substituting histidine for arginine at position 65 in proinsulin: identification of the mutation by restriction enzyme mappingNovel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiencyNew insights into perinatal testicular torsionEthical principles and recommendations for the medical management of differences of sex development (DSD)/intersex in children and adolescentsMucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapyThe efficacy of anakinra in an adolescent with colchicine-resistant familial Mediterranean feverJeune syndrome: description of 13 cases and a proposal for follow-up protocolLong-term cognitive and behavioral consequences of neonatal encephalopathy following perinatal asphyxia: a reviewEnterovirus and parechovirus infection in children: a brief overviewMotivations of children and their parents to participate in drug research: a systematic review"Nihilism" of chronic heart failure therapy in children and why effective therapy is withheldCow's milk allergy: evidence-based diagnosis and management for the practitionerEducational paper. Connective tissue disorders with vascular involvement: from gene to therapyClinical practice: swallowing problems in cerebral palsyEducational paper: do we need neonatal clinical pharmacologists?Hepatitis C virus infection acquired in childhoodEuropean Academy of Paediatrics, Barcelona, Spain, October 7-10, 2006. AbstractsEducational paper: Primary immunodeficiencies in children: a diagnostic challengeMono-sensitisation to peanut component Ara h 6: a case series of five children and literature reviewCongenital and childhood atrioventricular blocks: pathophysiology and contemporary managementData research on child abuse and neglect without informed consent? Balancing interests under Dutch lawDiagnosis and management of Crigler-Najjar syndromeInteractions of diazoxide with frusemide, spironolactone, and acetylsalicylic acid in a patient with hyperinsulinism of Infancy and Fallot tetralogyEfficacy of intravenous immune globulin therapy combined with dexamethasone for the initial treatment of acute Kawasaki diseaseMolecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studiesDiagnosis and treatment of the Pierre Robin sequence: results of a retrospective clinical study and review of the literatureCongenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapiesArthritis in Kawasaki disease after responding to intravenous immunoglobulin treatmentUnilateral decompressive craniectomy for children with severe brain injury. Report of seven cases and review of the relevant literatureAetiological diagnosis of male sex ambiguity: a collaborative studyEducational paper: primary antibody deficienciesBarth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardiumAcute disseminated demyelination due to primary human herpesvirus-6 infectionA newly recognized point mutation in the cytochrome b558 heavy chain gene replacing alanine57 by glutamic acid, in a patient with cytochrome b positive X-linked chronic granulomatous disease
P1433
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P1433
description
Medical journal
@en
Medical journal
@en-ca
Medical journal
@en-gb
Medizinische Fachzeitschrift
@de
Revue médicale
@fr
revista científica
@es
rivista scientifica
@it
vědecký časopis
@cs
wetenschappelijk tijdschrift van Springer Science+Business Media
@nl
name
European Journal of Pediatrics
@ast
European Journal of Pediatrics
@da
European Journal of Pediatrics
@de
European Journal of Pediatrics
@en
European Journal of Pediatrics
@en-ca
European Journal of Pediatrics
@en-gb
European Journal of Pediatrics
@es
European Journal of Pediatrics
@fi
European Journal of Pediatrics
@fr
European Journal of Pediatrics
@it
type
label
European Journal of Pediatrics
@ast
European Journal of Pediatrics
@da
European Journal of Pediatrics
@de
European Journal of Pediatrics
@en
European Journal of Pediatrics
@en-ca
European Journal of Pediatrics
@en-gb
European Journal of Pediatrics
@es
European Journal of Pediatrics
@fi
European Journal of Pediatrics
@fr
European Journal of Pediatrics
@it
altLabel
Eur. J. Pediatr.
@de
Eur. J. Pediatr.
@en
Eur. J. Pediatr.
@en-ca
Eur. J. Pediatr.
@en-gb
Eur. J. Pediatr.
@fr
Zeitschrift für Kinderheilkunde
@de
Zeitschrift für Kinderheilkunde
@en
Zeitschrift für Kinderheilkunde
@en-ca
Zeitschrift für Kinderheilkunde
@en-gb
Zeitschrift für Kinderheilkunde
@fr
prefLabel
European Journal of Pediatrics
@ast
European Journal of Pediatrics
@da
European Journal of Pediatrics
@de
European Journal of Pediatrics
@en
European Journal of Pediatrics
@en-ca
European Journal of Pediatrics
@en-gb
European Journal of Pediatrics
@es
European Journal of Pediatrics
@fi
European Journal of Pediatrics
@fr
European Journal of Pediatrics
@it
P3181
P1055
P1058
P1156
P1159
P1250
P1277
P1476
European Journal of Pediatrics
@en
P236
P3181
P407
P571
1910-01-01T00:00:00Z