-
1
-
-
84886636844
-
Variations in the phenotypic expression of B-glucuronidase deficiency
-
Beaudet AL, Differrante NM, Ferry GD, Nichols BL, Mullins CE. 1975. Variations in the phenotypic expression of B-glucuronidase deficiency. J Pediatr 86: 388-394.
-
(1975)
J Pediatr
, vol.86
, pp. 388-394
-
-
Beaudet, A.L.1
Differrante, N.M.2
Ferry, G.D.3
Nichols, B.L.4
Mullins, C.E.5
-
2
-
-
0037350839
-
Isolated fetal ascites caused by Wolman disease
-
Ben-Haroush A, Yogev Y, Levit O, Hod M, Kaplan B. 2003. Isolated fetal ascites caused by Wolman disease. Ultrasound Obstet Gynecol 21: 297-298.
-
(2003)
Ultrasound Obstet Gynecol
, vol.21
, pp. 297-298
-
-
Ben-Haroush, A.1
Yogev, Y.2
Levit, O.3
Hod, M.4
Kaplan, B.5
-
3
-
-
0026347437
-
Lysosomal storage diseases presenting as transient or persistent hydrops fetalis
-
Bonduelle M, Lissens W, Goossens A, et al. 1991. Lysosomal storage diseases presenting as transient or persistent hydrops fetalis. Genet Couns 2: 227-232.
-
(1991)
Genet Couns
, vol.2
, pp. 227-232
-
-
Bonduelle, M.1
Lissens, W.2
Goossens, A.3
-
4
-
-
0030753356
-
Diagnosis of lysosomal storage diseases with fetal presentation
-
Bouvier R, Maire I. 1997. Diagnosis of lysosomal storage diseases with fetal presentation. Ann Pathol 17: 277-280.
-
(1997)
Ann Pathol
, vol.17
, pp. 277-280
-
-
Bouvier, R.1
Maire, I.2
-
5
-
-
0033039275
-
Early-infantile type of galactosialidosis as a cause of heart failure and neonatal ascites
-
Claeys M, Van der Hoeven M, de Die-Smulders C, et al. 1999. Early-infantile type of galactosialidosis as a cause of heart failure and neonatal ascites. J Inherit Metab Dis 22: 666-667.
-
(1999)
J Inherit Metab Dis
, vol.22
, pp. 666-667
-
-
Claeys, M.1
Van Der Hoeven, M.2
De Die-Smulders, C.3
-
6
-
-
0026872139
-
Measuring urinary glycosaminoglycans in the presence of protein: An improved screening procedure for mucopolysaccharidoses based on dimethylmethylene blue
-
De Jong JGN, Wevers RA, Liebrand-van Sambeek R. 1992. Measuring urinary glycosaminoglycans in the presence of protein: an improved screening procedure for mucopolysaccharidoses based on dimethylmethylene blue. Clin Chem 38: 803-807.
-
(1992)
Clin Chem
, vol.38
, pp. 803-807
-
-
De Jong, J.G.N.1
Wevers, R.A.2
Liebrand-Van Sambeek, R.3
-
7
-
-
0034546976
-
In-utero diagnosis of mucopolysaccharidosis type VII in a fetus with an enlarged nuchal translucency
-
den Hollander NS, Kleijer WJ, Schoonderwaldt EM, Los FJ, Wladimiroff JW, Niermeijer MF. 2000. In-utero diagnosis of mucopolysaccharidosis type VII in a fetus with an enlarged nuchal translucency. Ultrasound Obstet Gynecol 16: 87-90.
-
(2000)
Ultrasound Obstet Gynecol
, vol.16
, pp. 87-90
-
-
Den Hollander, N.S.1
Kleijer, W.J.2
Schoonderwaldt, E.M.3
Los, F.J.4
Wladimiroff, J.W.5
Niermeijer, M.F.6
-
8
-
-
0029822569
-
Hyperphosphatasemia in early diagnosed infantile GMI gangliosidosis presenting as transient hydrops fetalis
-
Denis R, Wayenberg JL, Vermeulen M, et al. 1996. Hyperphosphatasemia in early diagnosed infantile GMI gangliosidosis presenting as transient hydrops fetalis. Acta Clin Belg 51: 320-327.
-
(1996)
Acta Clin Belg
, vol.51
, pp. 320-327
-
-
Denis, R.1
Wayenberg, J.L.2
Vermeulen, M.3
-
9
-
-
0036299220
-
Mucopolysaccharidosis VII (Sly disease) as a cause of increased nuchal translucency and non-immune hydrops fetalis: Study of a family and technical approach to prenatal diagnosis in early and late pregnancy
-
Geipel A, Berg C, Germer U, Krapp M, Kohl M, Gembruch U. 2002. Mucopolysaccharidosis VII (Sly disease) as a cause of increased nuchal translucency and non-immune hydrops fetalis: study of a family and technical approach to prenatal diagnosis in early and late pregnancy. Prenat Diagn 22: 493-495.
-
(2002)
Prenat Diagn
, vol.22
, pp. 493-495
-
-
Geipel, A.1
Berg, C.2
Germer, U.3
Krapp, M.4
Kohl, M.5
Gembruch, U.6
-
10
-
-
0043023511
-
Pathologic quiz case: A 5-day-old boy with hydrops fetalis. Mucolipidoses I (Sialidosis III)
-
Godra A, Kim DU, D'Cruz C. 2003. Pathologic quiz case: a 5-day-old boy with hydrops fetalis. Mucolipidoses I (Sialidosis III). Arch Pathol Lab Med 127: 1051-1052.
-
(2003)
Arch Pathol Lab Med
, vol.127
, pp. 1051-1052
-
-
Godra, A.1
Kim, D.U.2
D'Cruz, C.3
-
12
-
-
0029565165
-
Elevated plasma chitotriosidase activity in various lysosomal storage disorders
-
Guo Y, He W, Boer AM, et al. 1995. Elevated plasma chitotriosidase activity in various lysosomal storage disorders. J Inherit Metab Dis 18: 717-722.
-
(1995)
J Inherit Metab Dis
, vol.18
, pp. 717-722
-
-
Guo, Y.1
He, W.2
Boer, A.M.3
-
13
-
-
0018405128
-
A fluorometric assay using 4-methylumbelliferyl alpha-L-iduronide for the estimation of alpha-L-iduronidase activity and the detection of Hurler and Scheie syndromes
-
Hopwood JJ, Muller V, Smithson A, Baggett N. 1979. A fluorometric assay using 4-methylumbelliferyl alpha-L-iduronide for the estimation of alpha-L-iduronidase activity and the detection of Hurler and Scheie syndromes. Clin Chim Acta 92: 257-265.
-
(1979)
Clin Chim Acta
, vol.92
, pp. 257-265
-
-
Hopwood, J.J.1
Muller, V.2
Smithson, A.3
Baggett, N.4
-
14
-
-
0020059242
-
Nonimmunologic hydrops fetalis: A review of 61 cases
-
Hutchison AA, Drew JH, Yu VY, Williams ML, Fortune DW, Beischer NA. 1982. Nonimmunologic hydrops fetalis: a review of 61 cases. Obstet Gynecol 59: 347-352.
-
(1982)
Obstet Gynecol
, vol.59
, pp. 347-352
-
-
Hutchison, A.A.1
Drew, J.H.2
Yu, V.Y.3
Williams, M.L.4
Fortune, D.W.5
Beischer, N.A.6
-
15
-
-
0002842011
-
Hydrops fetalis
-
Brace RA, Hanson MA, Rodeck CH (eds). Cambridge University Press: Cambridge
-
Jauniaux E, Kaminopetros P, Rodeck C. 1998. Hydrops fetalis. In Body Fluids and Kidney Function, Brace RA, Hanson MA, Rodeck CH (eds). Cambridge University Press: Cambridge; 207-230.
-
(1998)
Body Fluids and Kidney Function
, pp. 207-230
-
-
Jauniaux, E.1
Kaminopetros, P.2
Rodeck, C.3
-
16
-
-
0030938952
-
Hydrops fetalis: Manifestation in lysosomal storage diseases including Farber disease
-
Kattner E, Schafer A, Harzer K. 1997. Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease. Eur J Pediatr 156: 292-295.
-
(1997)
Eur J Pediatr
, vol.156
, pp. 292-295
-
-
Kattner, E.1
Schafer, A.2
Harzer, K.3
-
17
-
-
0032585926
-
Recurrent nonimmune hydrops fetalis a rare presentations of sialic acid storage disease
-
Lefebvre G. 1999. Recurrent nonimmune hydrops fetalis a rare presentations of sialic acid storage disease. Genet Couns 10: 277-284.
-
(1999)
Genet Couns
, vol.10
, pp. 277-284
-
-
Lefebvre, G.1
-
18
-
-
0014977526
-
Thin-layer chromatographic separation of the isomeric chondroitin sulfates, dermatan sulfate and keratin sulfate
-
Lipiello L, Mankin HJ. 1977. Thin-layer chromatographic separation of the isomeric chondroitin sulfates, dermatan sulfate and keratin sulfate. Anal Biochem 39: 54-58.
-
(1977)
Anal Biochem
, vol.39
, pp. 54-58
-
-
Lipiello, L.1
Mankin, H.J.2
-
19
-
-
0025884630
-
Beta-glucuronidase deficiency as a cause of prenatally diagnosed non-immune hydrops fetalis
-
Lissens W, Dedobbeleer G, Foulon W, et al. 1991. Beta-glucuronidase deficiency as a cause of prenatally diagnosed non-immune hydrops fetalis. Prenat Diagn 11: 405-410.
-
(1991)
Prenat Diagn
, vol.11
, pp. 405-410
-
-
Lissens, W.1
Dedobbeleer, G.2
Foulon, W.3
-
20
-
-
0002351266
-
Hydrops, cystic hygroma, hydrothorax, pericardial effusions and fetal ascites
-
Gilbert-Barness E (ed.). Mosby: St Louis
-
Machin GA. 1997. Hydrops, cystic hygroma, hydrothorax, pericardial effusions and fetal ascites. In Pathology of the Fetus and Infant, Gilbert-Barness E (ed.). Mosby: St Louis; 163-181.
-
(1997)
Pathology of the Fetus and Infant
, pp. 163-181
-
-
Machin, G.A.1
-
21
-
-
0025079384
-
Niemann-Pick disease associated with nonimmune hydrops fetalis
-
Meizner I, Levy A, Carmi R, Robinsin C. 1990. Niemann-Pick disease associated with nonimmune hydrops fetalis. Am J Obstet Gynecol 163: 128-129.
-
(1990)
Am J Obstet Gynecol
, vol.163
, pp. 128-129
-
-
Meizner, I.1
Levy, A.2
Carmi, R.3
Robinsin, C.4
-
22
-
-
0018832224
-
Sialidosis: Delineation of subtypes by neuraminidase assay
-
O'Brien JS, Warner TG. 1980. Sialidosis: delineation of subtypes by neuraminidase assay. Clin Genet 17: 35-38.
-
(1980)
Clin Genet
, vol.17
, pp. 35-38
-
-
O'Brien, J.S.1
Warner, T.G.2
-
23
-
-
0019124675
-
A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase
-
Pentchev PG, Gal AE, Booth AD, et al. 1980. A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase. Biochim Biophys Acta 619: 669-679.
-
(1980)
Biochim Biophys Acta
, vol.619
, pp. 669-679
-
-
Pentchev, P.G.1
Gal, A.E.2
Booth, A.D.3
-
24
-
-
0017174536
-
Differentiation of β-glucocerebrosidase form β-glucosidase in human tissues using sodium taurocholate
-
Peters SP, Coyle P, Glew RH. 1976. Differentiation of β-glucocerebrosidase form β-glucosidase in human tissues using sodium taurocholate. Arch Biochem Biophys 175: 569-572.
-
(1976)
Arch Biochem Biophys
, vol.175
, pp. 569-572
-
-
Peters, S.P.1
Coyle, P.2
Glew, R.H.3
-
25
-
-
0029915457
-
Amniotic fluid for screening of lysosomal storage diseases presenting in utero (mainly as non-immune hydrops fetalis)
-
Piraud M, Froissart R, Mandon G, Bernard A, Maire I. 1996. Amniotic fluid for screening of lysosomal storage diseases presenting in utero (mainly as non-immune hydrops fetalis). Clin Chim Acta 248: 143-155.
-
(1996)
Clin Chim Acta
, vol.248
, pp. 143-155
-
-
Piraud, M.1
Froissart, R.2
Mandon, G.3
Bernard, A.4
Maire, I.5
-
26
-
-
0026704548
-
Diagnosis of alpha-mannosidosis by measuring of alpha-mannosidase in plasma
-
Prence EMNMR. 1992. Diagnosis of alpha-mannosidosis by measuring of alpha-mannosidase in plasma. Clin Chem 38: 501-503.
-
(1992)
Clin Chem
, vol.38
, pp. 501-503
-
-
Prence, E.M.N.M.R.1
-
27
-
-
0037224234
-
Mucopolysaccharidosis type VII presenting with isolated neonatal ascites
-
Saxonhouse MA, Behnke M, Williams JL, Richards D, Weiss MD. 2003. Mucopolysaccharidosis type VII presenting with isolated neonatal ascites. J Perinatol 23: 73-75.
-
(2003)
J Perinatol
, vol.23
, pp. 73-75
-
-
Saxonhouse, M.A.1
Behnke, M.2
Williams, J.L.3
Richards, D.4
Weiss, M.D.5
-
28
-
-
0018372573
-
An improved thin-layer chromatographic method for urinary oligosaccharide screening
-
Sewell A. 1979. An improved thin-layer chromatographic method for urinary oligosaccharide screening. Clin Chim Acta 92: 411-444.
-
(1979)
Clin Chim Acta
, vol.92
, pp. 411-444
-
-
Sewell, A.1
-
29
-
-
0015928602
-
Hexosaminidase A in tears and saliva for rapid identification of Tay-Sachs disease and its carriers
-
Singer JDCE, Krimmer R. 1973. Hexosaminidase A in tears and saliva for rapid identification of Tay-Sachs disease and its carriers. Lancet 2: 1116-1119.
-
(1973)
Lancet
, vol.2
, pp. 1116-1119
-
-
Singer, J.D.C.E.1
Krimmer, R.2
-
30
-
-
77049309786
-
Studies on the fibrinogen, dextran and phytohemaglutinin methods of isolating leukocytes
-
Skoog WA, Beck WS. 1956. Studies on the fibrinogen, dextran and phytohemaglutinin methods of isolating leukocytes. Blood 11: 436-454.
-
(1956)
Blood
, vol.11
, pp. 436-454
-
-
Skoog, W.A.1
Beck, W.S.2
-
31
-
-
0017177631
-
Stable thiobarbituric acid chromofore with dimethylsulphoxide. Application to sialic acid assay in analytical de-o-acetylation
-
Skoza MMS. 1976. Stable thiobarbituric acid chromofore with dimethylsulphoxide. Application to sialic acid assay in analytical de-o-acetylation. Biochem J 159: 457-462.
-
(1976)
Biochem J
, vol.159
, pp. 457-462
-
-
Skoza, M.M.S.1
-
32
-
-
0033286018
-
Hydrops fetalis: Lysosomal storage disorders in extremis
-
Stone DL, Sidransky E. 1999. Hydrops fetalis: lysosomal storage disorders in extremis. Adv Pediatr 46: 409-440.
-
(1999)
Adv Pediatr
, vol.46
, pp. 409-440
-
-
Stone, D.L.1
Sidransky, E.2
-
34
-
-
0031820589
-
Intrauterine growth acceleration in the case of a severe form of mucopolysaccharidosis type VII
-
Tokieda K, Morikawa Y, Natori M, Hayashida S, Mori K, Ikeda K. 1998. Intrauterine growth acceleration in the case of a severe form of mucopolysaccharidosis type VII. J Perinat Med 26: 235-239.
-
(1998)
J Perinat Med
, vol.26
, pp. 235-239
-
-
Tokieda, K.1
Morikawa, Y.2
Natori, M.3
Hayashida, S.4
Mori, K.5
Ikeda, K.6
-
35
-
-
0025135526
-
A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IVA)
-
van Diggelen OP, Zhao H, Kleijer WJ, et al. 1990. A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IVA). Clin Chim Acta 187: 131.
-
(1990)
Clin Chim Acta
, vol.187
, pp. 131
-
-
Van Diggelen, O.P.1
Zhao, H.2
Kleijer, W.J.3
-
36
-
-
0036303882
-
Lysosomal disorders
-
Wraith JE. 2002. Lysosomal disorders. Semin Neonatol 7: 75-83.
-
(2002)
Semin Neonatol
, vol.7
, pp. 75-83
-
-
Wraith, J.E.1
-
37
-
-
0029831993
-
Early-infantile galactosialidosis: Clinical, biochemical, and molecular observations in a new patient
-
Zammarchi E, Donati MA, Morrone A, Donzelli GP, Zhou XY, d'Azzo A. 1996. Early-infantile galactosialidosis: clinical, biochemical, and molecular observations in a new patient. Am J Med Genet 64: 453-458.
-
(1996)
Am J Med Genet
, vol.64
, pp. 453-458
-
-
Zammarchi, E.1
Donati, M.A.2
Morrone, A.3
Donzelli, G.P.4
Zhou, X.Y.5
D'Azzo, A.6
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