Lysosomal disorders

Applegarth, 1997 Machin, 1989, Hydrops Revisited: Literature review of 1,414 Cases Published in the 1980s, Am J Med Genet, 34, 366, 10.1002/ajmg.1320340313 Stone, 1999, Hydrops Fetalis: Lysosomal Storage Disorders In Extremis, Adv Pediatr, 46, 409 Norton, 1994, Nonimmune hydrops fetalis, Semin Perinatol, 18, 321 Knisely, 1995, The pathologist and the hydropic placenta, fetus, or infant, Semin Perinatol, 19, 525, 10.1016/S0146-0005(05)80059-X Nelson, 1993, Foamy changes of placental cells in probable beta glucuronidase deficiency associated with hydrops fetalis, J Clin Pathol, 46, 370, 10.1136/jcp.46.4.370 Soma, 2000, Identification of Gaucher cells in the chorionic villi associated with recurrent hydrops fetalis, Placenta, 21, 412, 10.1053/plac.1999.0483 Coran, 1967, Inguinal hernia in the Hurler-Hunter syndrome, Surgery, 61, 302 Rybojad, 1999, Extensive Mongolian spot related to Hurler disease, Ann Dermatol Venereol, 126, 35 Finn, 2000, Severe type II Gaucher disease with ichthyosis, arthrogryposis and neuronal apoptosis: molecular and pathological analyses, Am J Med Genet, 91, 222, 10.1002/(SICI)1096-8628(20000320)91:3<222::AID-AJMG13>3.0.CO;2-# Jaeken, 1980, Niemann-Pick type C disease and early cholestasis in three brothers, Acta Paediatr Belg, 33, 43 Lorber, 1987, Very early presentation of Pompe's disease and its cross-sectional echocardiographic features, Int J Cardiol, 16, 311, 10.1016/0167-5273(87)90156-2 Fong, 1987, Endocardial elastosis in mucopolysaccharidosis type VI, Clin Cardiol, 10, 362, 10.1002/clc.4960100612 Clarke, LA, Clinical diagnosis of lysosomal storage diseases, 43, 44 Herman, 1996, Neonatal mucolipidosis II (I-cell disease) with dysharmonic epiphyseal ossification and butterfly vertebral body, J Perinatol, 16, 400 Markesbery, 1980, Mucopolysaccharidoses; ultrastructure of leukocyte inclusions, Ann Neurol, 8, 332, 10.1002/ana.410080320 Buchino, JJ, Vogler, C, Dimmick, JE, Anatomical pathology of lysosomal storage diseases, 115, 142 Wraith, 2001, Advances in the treatment of lysosomal storage disease, Dev Med Child Neurol, 10.1017/S0012162201001165 Miekele, 1999, Prevalence of lysosomal storage disorders, JAMA, 281, 249, 10.1001/jama.281.3.249 Poorthuis, 1999, The frequency of lysosomal storage disease in the Netherlands, Hum Genet, 105, 151, 10.1007/s004399900075 Umapathysivam, 2000, Determination of acid alpha-glucosidase protein: evaluation of a screening marker for Pompe disease and other lysosomal storage disorders, Clin Chem, 46, 1318, 10.1093/clinchem/46.9.1318 Chamoles, 2001, Diagnosis of alpha-L-Iduronidase deficiency in dried blood spots on filter paper: the possibility of newborn diagnosis, Clin Chem, 47, 780, 10.1093/clinchem/47.4.780 Applegarth, 1987, Morquio disease presenting as hydrops fetalis and enzyme analysis of chorion villus tissue in a subsequent pregnancy, Pediatr Pathol, 7, 593, 10.3109/15513818709161423 Stangenberg, 1992, Mucopolysacchaidosis VII as a cause of fetal hydrops in early pregnancy, Am J Med Genet, 44, 142, 10.1002/ajmg.1320440205 Bucholz, 2001, Clinical presentation of congenital sialidosis in a patient with neuraminidase gene frameshift mutation, Eur J Pediatr, 160, 26, 10.1007/PL00008412 Appelmann, 1988, Nonimmune hydrops fetalis may be associated with an elevated ΔOD450 in the amniotic fluid, Obstet Gynecol, 71, 1005 Merin, 1975, Mucolipidosis IV: ocular, systemic, and ultrastructural findings, Invest Ophthalmol Vis Sci, 14, 437 Tasso, 1996, Gm1-gangliosidosis presenting as nonimmune hydrops fetalis: a case report, J Perinat Med, 24, 445, 10.1515/jpme.1996.24.5.445 1984, Neuropaediatrics, 15, 11, 10.1055/s-2008-1052374 Sharma, 2000, Perinatal lethal form of Gaucher's disease presenting with hemosiderosis, Am J Perinatol, 17, 201, 10.1055/s-2000-9419 Kattner, 1997, Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease, Eur J Pediatr, 156, 292, 10.1007/s004310050603 Kolodny, 2000, Niemann-Pick Disease, Curr Opin Hematol, 7, 48, 10.1097/00062752-200001000-00009 Hoeg, 1984, Cholesteryl ester storage disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency, Am J Hum Genet, 36, 1190 Maconochie, 1989, Fetal ascites: an unusual presentation of Niemann-Pick disease type C, Arch Dis Child, 64, 1391, 10.1136/adc.64.10_Spec_No.1391 Lemyre, 1999, Clinical spectrum of infantile free sialic acid storage disease, Am J Med Genet, 82, 385, 10.1002/(SICI)1096-8628(19990219)82:5<385::AID-AJMG6>3.0.CO;2-3 Shih, 1989, Defective lysosomal release of vitamin B12 (cbl F): a hereditary cobalamin metabolic disorder associated with sudden death, Am J Med Genet, 33, 555, 10.1002/ajmg.1320330431 Haagerup, 2000, Cathepsin K gene mutations and 1q21 haplotypes in a patient with pycnodyostosis in an outbred population, Eur J Hum Genet, 8, 431, 10.1038/sj.ejhg.5200481 Castano Suarez, 1997, Ichthyosis: the skin manifestation of multiple sulfatase deficiency, Pediatr Dermatol, 14, 369, 10.1111/j.1525-1470.1997.tb00984.x Patel, 1999, Early infantile galactosialidosis: prenatal presentation and postnatal follow-up, Am J Med Genet, 85, 38, 10.1002/(SICI)1096-8628(19990702)85:1<38::AID-AJMG8>3.0.CO;2-3