Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Lieve Sevenants"'
Publikováno v:
Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology. 30(4)
An 8-year-old girl presented with precocious menstruation and growth delay. Laboratory data revealed hypothyroidism and an X-ray of the wrist showed a delayed bone age. The Van Wyk and Grumbach syndrome (VWGS) was diagnosed and thyroid replacement wa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b6bb3f8e9d83c9b22a161c886962bbd
https://pubmed.ncbi.nlm.nih.gov/24568556
https://pubmed.ncbi.nlm.nih.gov/24568556
Autor:
Heidi Schaballie, Luc Régal, Anniek Corveleyn, Ilse Hoffman, Isabelle Scheers, Karel Allegaert, Isabelle Meyts, David Cassiman, Filomeen Haerynck, Tania Roskams, Xavier Bossuyt, Nancy Boeckx, Lieve Sevenants, Victoria Bordon, Christiane Vermylen, Marleen Renard, Kris De Boeck, Nicole Revencu
Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterised by skeletal dysplasia, exocrine pancreatic insufficiency and bone marrow failure. Various other conditions, such as hepatopathy and failure to thrive have been associat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d387cfa21899d3f6d5e0463359b437e
https://lirias.kuleuven.be/handle/123456789/390459
https://lirias.kuleuven.be/handle/123456789/390459
Autor:
Xavier Bossuyt, A. Uyttebroeck, Heidi Schaballie, Victoria Bordon, Isabelle Meyts, C Vermylen, Marleen Renard, Anniek Corveleyn, Lieve Sevenants, Filomeen Haerynck
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 9, Iss Suppl 1, p P313 (2011)
Pediatric Rheumatology Online Journal
Europe PubMed Central
Pediatric Rheumatology Online Journal
Europe PubMed Central
Results In 10 patients an SBDS mutation was identified in both alleles, patient 11 was heterozygous. The mean age at diagnosis was 2.9 years. All patients had exocrine pancreatic insufficiency. Radiological evidence of skeletal dysplasia was present
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17e47a79ab45d0eb946146d839620d0d
https://doaj.org/article/7f2b236dbf9b434c847785acf788bdd5
https://doaj.org/article/7f2b236dbf9b434c847785acf788bdd5
Autor:
Carine Wouters, Annachiara De Sandre-Giovannoli, Nicolas Lévy, K. Marien, Marie-Anne Morren, Koen Devriendt, Hugo Devlieger, Lieve Sevenants, Joost van den Oord
Publikováno v:
European journal of pediatrics. 164(5)
We present a 7-week-old male infant with pseudoscleroderma as a primary manifestation of the Hutchinson-Gilford syndrome of premature aging. He had suffered intra-uterine growth retardation; micrognathism and a cleft palate were evident at birth. He
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8236262926c6e76bc2fab0b703d0ad3
https://pubmed.ncbi.nlm.nih.gov/15726408
https://pubmed.ncbi.nlm.nih.gov/15726408