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Chapter 24 - Lysosomal Storage Disease, Bartter Syndrome, and Mimics

from Section 6 - Other Pathologic Processes

Published online by Cambridge University Press:  03 September 2018

Raymond W. Redline
Affiliation:
Case Western Reserve University, Ohio
Theonia K. Boyd
Affiliation:
Harvard Medical School, Boston
Drucilla J. Roberts
Affiliation:
Harvard Medical School, Boston
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Publisher: Cambridge University Press
Print publication year: 2017

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References

Lake, BD, Young, EP, Winchester, BG. Prenatal diagnosis of lysosomal storage diseases. Brain Pathol. 1998;8:133–49.CrossRefGoogle ScholarPubMed
Platt, FM, Boland, B, van der Spoel, AC. The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction. J Cell Biol. 2012;199:723–34.CrossRefGoogle ScholarPubMed
Whybra, C, Mengel, E, Russo, A, et al. Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature. Orphanet J Rare Dis. 2012;7:86.Google Scholar
Case Records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 23–1997. A premature newborn infant with congenital ascites. N Engl J Med. 1997;337:260–7.Google Scholar
Cox, P. Syndromes with stippled epiphyses/chondrodysplasia punctata (London medical database). Pediatric pathologists of the world, listserv. July 17, 2011.Google Scholar
Redline, RW, Zaragoza, MV, Hassold, T. Prevalence of developmental and inflammatory lesions in non-molar first trimester spontaneous abortions. Hum Pathol. 1999;30:93100.Google Scholar
Dainese, L, Adam, N, Boudjemaa, S, et al. Glycogen Storage Disease Type IV and Early Implantation Defect: Early Trophoblastic Involvement Associated with a New GBE1 Mutation. Pediatr Dev Pathol. 2016;19:512–5.Google Scholar
Grafe, MR, Benirschke, K. Ultrastructural study of the amniotic epithelium in a case of gastroschisis. Pediatr Pathol. 1990;10:95101.Google Scholar
Fowler, DJ, Anderson, G, Vellodi, A, et al. Electron microscopy of chorionic villus samples for prenatal diagnosis of lysosomal storage disorders. Ultrastruct Pathol. 2007;31:1521.Google Scholar
Jones, CJ, Lendon, M, Chawner, LE, et al. Ultrastructure of the human placenta in metabolic storage disease. Placenta. 1990;11:395411.Google Scholar
Thurberg, BL, Politei, JM. Histologic abnormalities of placental tissues in Fabry disease: a case report and review of the literature. Hum Pathol. 2012;43:610–4.Google Scholar
Kostadinov, S, Shah, BA, Alroy, J, et al. A case of galactosialidosis with novel mutations of the protective protein/cathepsin a gene: diagnosis prompted by trophoblast vacuolization on placental examination. Pediatr Dev Pathol. 2014;17:474–7.Google Scholar
Ferreira, CR, Gahl, WA. Lysosomal storage diseases. Translat Sci of Rare Dis. 2017;25:171.Google Scholar
Ernst, LM, Parkash, V. Placental pathology in fetal bartter syndrome. Pediatr Dev Pathol. 2002;5:76–9.CrossRefGoogle ScholarPubMed
Maruyama, H, Shinno, Y, Fujiwara, K, et al. Nephrocalcinosis and placental findings in neonatal Bartter syndrome. AJP Rep. 2013;3:21–4.Google Scholar
Krasikov, NE, McKusick, VA. #241200 Bartter syndrome, type 2, antenatal; BARTS2. www.omim.org/entry/241200.Google Scholar
Dane, B, Dane, C, Aksoy, F, et al. Antenatal Bartter syndrome: analysis of two cases with placental findings. Fetal Pediatr Pathol. 2010;29:121–6.CrossRefGoogle ScholarPubMed

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