van de Kamp JJ - Search Results

1

Effect of bone marrow transplantation on enzyme levels and clinical course in the neurologically affected twitcher mouse.

Hoogerbrugge PM, Poorthuis BJ, Romme AE, van de Kamp JJ, Wagemaker G, van Bekkum DW. Hoogerbrugge PM, et al. Among authors: van de kamp jj, van bekkum dw. J Clin Invest. 1988 Jun;81(6):1790-4. doi: 10.1172/JCI113521. J Clin Invest. 1988. PMID: 3290253 Free PMC article.

2

Hypophosphatasia: biochemical screening of a Dutch kindred and evidence that urinary excretion of inorganic pyrophosphate is a marker for the disease.

Macfarlane JD, Poorthuis BJ, van de Kamp JJ, Russell RG, Caswell AM. Macfarlane JD, et al. Among authors: van de kamp jj. Clin Chem. 1988 Sep;34(9):1937-41. Clin Chem. 1988. PMID: 2843309

3

Dicarboxylicaciduria and secondary carnitine deficiency in glycogenosis type IV.

Maaswinkel-Mooy PD, Poorthuis BJ, van Gelderen HH, van de Kamp JJ. Maaswinkel-Mooy PD, et al. Among authors: van de kamp jj, van gelderen hh. Arch Dis Child. 1987 Oct;62(10):1066-7. doi: 10.1136/adc.62.10.1066. Arch Dis Child. 1987. PMID: 3479053 Free PMC article.

4

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).

Hrebícek M, Mrázová L, Seyrantepe V, Durand S, Roslin NM, Nosková L, Hartmannová H, Ivánek R, Cízkova A, Poupetová H, Sikora J, Urinovská J, Stranecký V, Zeman J, Lepage P, Roquis D, Verner A, Ausseil J, Beesley CE, Maire I, Poorthuis BJ, van de Kamp J, van Diggelen OP, Wevers RA, Hudson TJ, Fujiwara TM, Majewski J, Morgan K, Kmoch S, Pshezhetsky AV. Hrebícek M, et al. Am J Hum Genet. 2006 Nov;79(5):807-19. doi: 10.1086/508294. Epub 2006 Sep 8. Am J Hum Genet. 2006. PMID: 17033958 Free PMC article.

5

Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory.

van der Mey AG, Maaswinkel-Mooy PD, Cornelisse CJ, Schmidt PH, van de Kamp JJ. van der Mey AG, et al. Among authors: van de kamp jj. Lancet. 1989 Dec 2;2(8675):1291-4. doi: 10.1016/s0140-6736(89)91908-9. Lancet. 1989. PMID: 2574254 Review.

6

Treatment of osteogenesis imperfecta with the bisphosphonate olpadronate (dimethylaminohydroxypropylidene bisphosphonate).

Landsmeer-Beker EA, Massa GG, Maaswinkel-Mooy PD, van de Kamp JJ, Papapoulos SE. Landsmeer-Beker EA, et al. Among authors: van de kamp jj. Eur J Pediatr. 1997 Oct;156(10):792-4. doi: 10.1007/s004310050715. Eur J Pediatr. 1997. PMID: 9365071

7

[A xanthine calculus in a child with xanthinuria. Notes on a rare inborn error of metabolism].

de Voogt HJ, van de Kamp JJ, van Gelderen HH, Bernini LF, Boogaart AM. de Voogt HJ, et al. Among authors: van de kamp jj, van gelderen hh. Ned Tijdschr Geneeskd. 1973 Jun 30;117(26):976-9. Ned Tijdschr Geneeskd. 1973. PMID: 4784348 Dutch. No abstract available.

8

Female pseudo-hermaphroditism due to an adrenal tumour in the mother.

van de Kamp JJ, van Seters AP, Moolenaar AJ, van Gelderen HH. van de Kamp JJ, et al. Among authors: van gelderen hh, van seters ap. Eur J Pediatr. 1984 Jun;142(2):140-2. doi: 10.1007/BF00445598. Eur J Pediatr. 1984. PMID: 6468432

9

Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) with nephropathy.

Looij BJ Jr, te Slaa RL, Hogewind BL, van de Kamp JJ. Looij BJ Jr, et al. Among authors: van de kamp jj. J Med Genet. 1988 Oct;25(10):682-6. doi: 10.1136/jmg.25.10.682. J Med Genet. 1988. PMID: 3225824 Free PMC article.

10

Facial dysmorphia, parathyroid and thymic dysfunction in the father of a newborn with the DiGeorge complex.

Maaswinkel-Mooij PD, Papapoulos SE, Gerritsen EJ, Mudde AH, Van de Kamp JJ. Maaswinkel-Mooij PD, et al. Among authors: van de kamp jj. Eur J Pediatr. 1989 Dec;149(3):179-83. doi: 10.1007/BF01958276. Eur J Pediatr. 1989. PMID: 2612507

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