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  1. No Access

    Article

    Familial adrenocortiocotropin unresponsiveness associated With alacrima and achalasia: Biochemical and molecular studies in two siblings with clincial heterogeneity

    The syndrome of familial adrenocorticotropin (ACTH) unresponsiveness is a rare form of primary adrenal insufficiency, usually without mineralocorticoid deficiency. It is characterized by elevated plasma ACTH c...

    Claudine Heinrichs, Constanine Tsigos, Jean Deschepper… in European Journal of Pediatrics (1995)

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    Article

    Cutaneous porphyria in a neonate with tyrosinaemia type 1

    A term infant born to consanguineous parents presented at birth with hypoglycaemia, thrombocytopenia, coagulopathy and hyperbilirubinaemia associated with polycythaemia due to delayed cord clam**. Despite p...

    Serge Vanden Eijnden, Denise Blum, Anne Clercx… in European Journal of Pediatrics (2000)

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    Growth, nutritional status, and signs of rickets in 0–5-year-old children in a Kashin–Beck disease endemic area of Central Tibet

    In order to describe the growth of 0–5-year-old Tibetan children living in a Kashin–Beck disease (KBD) endemic rural area and to examine the relationship between anthropometric indicators and clinical signs of...

    Shancy Rooze, Michèle Dramaix-Wilmet, Françoise Mathieu… in European Journal of Pediatrics (2012)

  4. Article

    Does insulin-like growth factor-1 mediate protein-induced kidney growth in infants?: A secondary analysis from a randomized controlled trial

    Animal models have shown that insulin-like growth factor I (IGF-I) may mediate protein-induced kidney growth. Our aim was to analyze the effect of IGF-I on protein-induced kidney growth in healthy infants.

    Veronica Luque, Joaquin Escribano, Veit Grote, Natalia Ferre… in Pediatric Research (2013)

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    Early treatment of a child with NAGS deficiency using N-carbamyl glutamate results in a normal neurological outcome

    Acute hyperammonemia has a variety of etiologies and clinical manifestations. If not treated early in neonates, it leads to irreversible brain damage or death. We present a 7-day-old female patient who was bro...

    Anouk Van Leynseele, Anna Jansen, Philippe Goyens… in European Journal of Pediatrics (2014)

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    Article

    Is a semi-elemental diet better than a polymeric diet after congenital heart surgery?

    A retrospective observational study has been set up in order to compare feeding tolerance and energy delivery in children fed with a semi-elemental diet or a polymeric diet after congenital heart surgery. The ...

    Shancy Rooze, Sid Ali Namane, Xavier Beretta… in European Journal of Pediatrics (2020)