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Wolman's disease: clinical, biochemical and ultrastructural studies in an unusual case without striking adrenal calcification.

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Wolman's disease: clinical, biochemical and ultrastructural studies in an unusual case without striking adrenal calcification. / Schaub, J; Janka, G E; Christomanou, H; Sandhoff, K; Permanetter, W; Janka-Schaub, Gritta; Meister, P.

In: EUR J PEDIATR, Vol. 135, No. 1, 1, 1980, p. 45-53.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Schaub, J, Janka, GE, Christomanou, H, Sandhoff, K, Permanetter, W, Janka-Schaub, G & Meister, P 1980, 'Wolman's disease: clinical, biochemical and ultrastructural studies in an unusual case without striking adrenal calcification.', EUR J PEDIATR, vol. 135, no. 1, 1, pp. 45-53. <http://www.ncbi.nlm.nih.gov/pubmed/7449788?dopt=Citation>

APA

Schaub, J., Janka, G. E., Christomanou, H., Sandhoff, K., Permanetter, W., Janka-Schaub, G., & Meister, P. (1980). Wolman's disease: clinical, biochemical and ultrastructural studies in an unusual case without striking adrenal calcification. EUR J PEDIATR, 135(1), 45-53. [1]. http://www.ncbi.nlm.nih.gov/pubmed/7449788?dopt=Citation

Vancouver

Schaub J, Janka GE, Christomanou H, Sandhoff K, Permanetter W, Janka-Schaub G et al. Wolman's disease: clinical, biochemical and ultrastructural studies in an unusual case without striking adrenal calcification. EUR J PEDIATR. 1980;135(1):45-53. 1.

Bibtex

@article{e278f6b3b1af49ee827edcc55fbb1013,
title = "Wolman's disease: clinical, biochemical and ultrastructural studies in an unusual case without striking adrenal calcification.",
abstract = "A case of Wolman's disease is described in a German infant who died at the age of 4 months. Hepatosplenomegaly, abdominal distention, gastrointestinal symptoms, dyserythropoietic changes in the bone marrow, but not adrenal calcification on X-ray were present. Stored lipid material could be demonstrated in liver, spleen, intestine, adrenals, thymus, kidneys, blood cells, but not in the central nervous system. Cholesterylesters and triglycerides were markedly increased in liver and spleen. Lysosomal acid lipase was found to be decreased in leucocytes and liver to less than 10% of normal, when measured with synthetic and natural substrates.",
author = "J Schaub and Janka, {G E} and H Christomanou and K Sandhoff and W Permanetter and Gritta Janka-Schaub and P Meister",
year = "1980",
language = "Deutsch",
volume = "135",
pages = "45--53",
journal = "EUR J PEDIATR",
issn = "0340-6199",
publisher = "Springer",
number = "1",

}

RIS

TY - JOUR

T1 - Wolman's disease: clinical, biochemical and ultrastructural studies in an unusual case without striking adrenal calcification.

AU - Schaub, J

AU - Janka, G E

AU - Christomanou, H

AU - Sandhoff, K

AU - Permanetter, W

AU - Janka-Schaub, Gritta

AU - Meister, P

PY - 1980

Y1 - 1980

N2 - A case of Wolman's disease is described in a German infant who died at the age of 4 months. Hepatosplenomegaly, abdominal distention, gastrointestinal symptoms, dyserythropoietic changes in the bone marrow, but not adrenal calcification on X-ray were present. Stored lipid material could be demonstrated in liver, spleen, intestine, adrenals, thymus, kidneys, blood cells, but not in the central nervous system. Cholesterylesters and triglycerides were markedly increased in liver and spleen. Lysosomal acid lipase was found to be decreased in leucocytes and liver to less than 10% of normal, when measured with synthetic and natural substrates.

AB - A case of Wolman's disease is described in a German infant who died at the age of 4 months. Hepatosplenomegaly, abdominal distention, gastrointestinal symptoms, dyserythropoietic changes in the bone marrow, but not adrenal calcification on X-ray were present. Stored lipid material could be demonstrated in liver, spleen, intestine, adrenals, thymus, kidneys, blood cells, but not in the central nervous system. Cholesterylesters and triglycerides were markedly increased in liver and spleen. Lysosomal acid lipase was found to be decreased in leucocytes and liver to less than 10% of normal, when measured with synthetic and natural substrates.

M3 - SCORING: Zeitschriftenaufsatz

VL - 135

SP - 45

EP - 53

JO - EUR J PEDIATR

JF - EUR J PEDIATR

SN - 0340-6199

IS - 1

M1 - 1

ER -