Blom W - Search Results

1

D-Lactic acidosis in a boy with short bowel syndrome.

Schoorel EP, Giesberts MA, Blom W, van Gelderen HH. Schoorel EP, et al. Among authors: blom w. Arch Dis Child. 1980 Oct;55(10):810-2. doi: 10.1136/adc.55.10.810. Arch Dis Child. 1980. PMID: 7436446 Free PMC article.

2

Glutaric aciduria type II: treatment with riboflavine, carnitine and insulin.

Mooy PD, Przyrembel H, Giesberts MA, Scholte HR, Blom W, van Gelderen HH. Mooy PD, et al. Among authors: blom w. Eur J Pediatr. 1984 Dec;143(2):92-5. doi: 10.1007/BF00445792. Eur J Pediatr. 1984. PMID: 6394338

3

Glutaric aciduria type II: multiple defects in isolated muscle mitochondria and deficient beta-oxidation in fibroblasts.

Mooy PD, Giesberts MA, van Gelderen HH, Scholte HR, Luyt-Houwen IE, Przyrembel H, Blom W. Mooy PD, et al. Among authors: blom w. J Inherit Metab Dis. 1984;7 Suppl 2:101-2. doi: 10.1007/978-94-009-5612-4_25. J Inherit Metab Dis. 1984. PMID: 6434854 No abstract available.

4

Morquio-B disease, spondyloepiphyseal dysplasia associated with acid beta-galactosidase deficiency. Report of three cases in one family.

van Gemund JJ, Giesberts MA, Eerdmans RF, Blom W, Kleijer WJ. van Gemund JJ, et al. Among authors: blom w. Hum Genet. 1983;64(1):50-4. doi: 10.1007/BF00289478. Hum Genet. 1983. PMID: 6409799

5

Neurologic action of megadoses of vitamins.

Blom W, van den Berg GB, Huijmans JG, Przyrembel H, Fernandes J, Scholte HR, Sanders-Woudstra JA. Blom W, et al. Bibl Nutr Dieta. 1986;(38):120-35. doi: 10.1159/000412607. Bibl Nutr Dieta. 1986. PMID: 2938572 No abstract available.

6

Acetyl-CoA carboxylase deficiency: an inborn error of de novo fatty acid synthesis.

Blom W, de Muinck Keizer SM, Scholte HR. Blom W, et al. N Engl J Med. 1981 Aug 20;305(8):465-6. doi: 10.1056/NEJM198108203050820. N Engl J Med. 1981. PMID: 6114432 No abstract available.

7

Morquio B syndrome: a primary defect in beta-galactosidase.

van der Horst GT, Kleijer WJ, Hoogeveen AT, Huijmans JG, Blom W, van Diggelen OP. van der Horst GT, et al. Among authors: blom w. Am J Med Genet. 1983 Oct;16(2):261-75. doi: 10.1002/ajmg.1320160215. Am J Med Genet. 1983. PMID: 6418007

8

Prenatal diagnosis of Sanfilippo disease type B.

Kleijer WJ, Huijmans JG, Blom W, Gorska D, Kubalska J, Walasek M, Zaremba J. Kleijer WJ, et al. Among authors: blom w. Hum Genet. 1984;66(4):287-8. doi: 10.1007/BF00287628. Hum Genet. 1984. PMID: 6427096

9

Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother.

Kleijer WJ, Hu P, Thoomes R, Boer M, Huijmans JG, Blom W, Van Diggelen OP, Seemanova E, Macek M. Kleijer WJ, et al. Among authors: blom w. J Inherit Metab Dis. 1990;13(6):867-72. doi: 10.1007/BF01800211. J Inherit Metab Dis. 1990. PMID: 2079835

10

alpha-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorder.

van Diggelen OP, Schindler D, Willemsen R, Boer M, Kleijer WJ, Huijmans JG, Blom W, Galjaard H. van Diggelen OP, et al. Among authors: blom w. J Inherit Metab Dis. 1988;11(4):349-57. doi: 10.1007/BF01800424. J Inherit Metab Dis. 1988. PMID: 3149698

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