Zobrazeno 1 - 10
of 109
pro vyhledávání: '"S. B. van der Meer"'
Autor:
McLoughlin, Callan D.1 (AUTHOR), Nevins, Sarah1 (AUTHOR), Stein, Joshua B.1 (AUTHOR), Khakbiz, Mehrdad1 (AUTHOR), Lee, Ki‐Bum1,2,3 (AUTHOR) kblee@rutgers.edu
Publikováno v:
Small Science. Dec2024, Vol. 4 Issue 12, p1-36. 36p.
Autor:
Song, Qingting1 (AUTHOR), Li, Junyou1 (AUTHOR), Li, Ting1 (AUTHOR), Li, Hung‐Wing1 (AUTHOR) hungwingli@cuhk.edu.hk
Publikováno v:
Advanced Science. 10/16/2024, Vol. 11 Issue 38, p1-44. 44p.
Autor:
Jaak Jaeken, Jaap A. Bakker, Richard Steet, H. J. Sijstermans, L. J. M. Spaapen, S. B. van der Meer, Ron A. Wevers
Publikováno v:
Journal of Inherited Metabolic Disease, 28, 5, pp. 707-14
Journal of Inherited Metabolic Disease, 28, 707-14
Journal of Inherited Metabolic Disease, 28, 707-14
Contains fulltext : 48723.pdf (Publisher’s version ) (Closed access) Congenital disorders of glycosylation (CDG) represent a group of inherited multiorgan diseases caused by defects in the biosynthesis of glycoproteins. We report on two dysmorphic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96af222bfb63c8e8448a8c05e0262e79
https://doi.org/10.1007/s10545-005-0015-z
https://doi.org/10.1007/s10545-005-0015-z
Publikováno v:
Acta Paediatrica. 79:422-426
Small bowel permeability was investigated in 87 children with recurrent abdominal pain by measuring the 24-h urinary excretion of orally administered 51Cr-EDTA. The mean excretion was 3.64% +/- 1.49% per 24 h. The difference between the mean urinary
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec2e54048d7f1fc89e6ebe89c9b9f9c7
https://doi.org/10.1111/j.1651-2227.1990.tb11487.x
https://doi.org/10.1111/j.1651-2227.1990.tb11487.x
Autor:
S. B. van der Meer, Henk D. Bakker, F. J. van Spronsen, Gerrit Smit, R. C. A. Sengers, MA Van Houten, Paul H. Verkerk
Publikováno v:
Acta Paediatrica, 86(8), 816-818. Wiley
To assess whether growth retardation in patients with phenylketonuria (PKU) is related to the strictness of their dietary treatment, the relationship between Z scores for height up to 3 y of age and different indices of dietary control in 103 early t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a7d9f977194909115e12fb0cecd71ac
https://doi.org/10.1111/j.1651-2227.1997.tb08603.x
https://doi.org/10.1111/j.1651-2227.1997.tb08603.x
Autor:
M, de Graaf, S B, van der Meer
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 149(38)
A 2-weeks-old girl was presented with a swelling of the right parotid gland, due to acute suppurative parotitis caused by Staphylococcus aureus.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7211b65831ac6942881e452ca2dd999e
https://pubmed.ncbi.nlm.nih.gov/16201601
https://pubmed.ncbi.nlm.nih.gov/16201601
Autor:
P. Vos, P Ph Forget, Ronald J.A. Wanders, Jaap A. Bakker, S. B. van der Meer, M. E. Rubio-Gozalbo, Hans R. Waterham
Publikováno v:
Scopus-Elsevier
Acta Paediatrica, 92(4), 501-504. Wiley
Acta paediatrica (Oslo, Norway, 92(4), 501-504. Wiley-Blackwell
Acta Paediatrica, 92(4), 501-504. Wiley
Acta paediatrica (Oslo, Norway, 92(4), 501-504. Wiley-Blackwell
Carnitine-acylcarnitine translocase deficiency: case report and review of the literature.Rubio-Gozalbo ME, Vos P, Forget PP, Van Der Meer SB, Wanders RJ, Waterham HR, Bakker JA.Departments of Pediatrics, University Hospital Maastricht, The Netherland
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::358bd08b61dcec6e48dcc781de22c6ff
https://pubmed.ncbi.nlm.nih.gov/12801121
https://pubmed.ncbi.nlm.nih.gov/12801121
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 147(18)
A 14-years-old Dutch boy had pain in both calves, recurrent oral ulcers, fever, hoarseness and erythema nodosum-like skin lesions. Laryngoscopic examination revealed a vocal cord ulcer and leukocytoclastic vasculitis was visible in a skin biopsy. Bas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::005bc86b95903ef79f375764595f163c
https://pubmed.ncbi.nlm.nih.gov/12756879
https://pubmed.ncbi.nlm.nih.gov/12756879
Autor:
M T, van Reisen, S B, van der Meer
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 147(9)
One week after a fall from his buggy, a 2-year-old boy was seen at the first-aid department because he refused to walk. A bone scan and MRI revealed spondylodiscitis at the left side of the discus Liv-Lv and a psoas abscess.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::308b2b1449f8f3cc7e869bcb94d16671
https://pubmed.ncbi.nlm.nih.gov/12814027
https://pubmed.ncbi.nlm.nih.gov/12814027
Autor:
P R, Rosias, J M, Sijstermans, P M, Theunissen, C F, Pulles-Heintzberger, C E, De Die-Smulders, J J, Engelen, S B, Van Der Meer
Publikováno v:
Genetic counseling (Geneva, Switzerland). 12(3)
We present a male infant with preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome. The clinical features in our patient show phenotypic overlap with the cat e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2c448ab2be39bb6675a3a41fa7251ba7
https://pubmed.ncbi.nlm.nih.gov/11693792
https://pubmed.ncbi.nlm.nih.gov/11693792