{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T13:32:26Z","timestamp":1770903146321,"version":"3.50.1"},"reference-count":57,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,10]]},"abstract":"<jats:p>Until recently, the peroxisome was considered a \"reactor chamber\" for H2O2 producing oxidases, and it is now recognised as a versatile organelle performing complex catabolic and biosynthetic roles in the cell. Zellweger syndrome (ZS), the paradigm of human peroxisomal disorders, is characterised by neonatal hypotonia, severe neuro-developmental delay, hepatomegaly, renal cysts, senorineural deafness, retinal dysfunction, and facial dysmorphism. It is now clear that ZS is at the severe end of a phenotypic spectrum of Zellweger-like syndromes which may present for diagnosis later in childhood and even in adult life. It is important that clinical geneticists are aware of these milder clinical variants as the availability of sensitive and specific biochemical assays of peroxisomal function (for example, serum VLCFA ratios, platelet DHAP-AT activity) makes their diagnosis relatively straightforward.<\/jats:p>","DOI":"10.1136\/jmg.33.10.863","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"863-868","source":"Crossref","is-referenced-by-count":27,"title":["Zellweger syndrome and associated phenotypes."],"prefix":"10.1136","volume":"33","author":[{"given":"D R","family":"FitzPatrick","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1996,10,1]]},"reference":[{"key":"ref_1","first-page":"219","article-title":"Combined biochemical and morphological study of particulate fractions from rat livers","volume":"26","author":"Baudhuin, P.; Beaufay, H.; De Duve, C.","year":"1965","unstructured":"Baudhuin P, Beaufay H, De Duve C. Combined biochemical and morphological study of particulate fractions from rat livers. _7 Cell Biol 1965;26:219."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1111\/j.1749-6632.1987.tb40597.x","article-title":"The simultaneous symbiotic origin of mitochondria, chloroplasts and microbodies","volume":"503","author":"Cavalier-Smith, T.","year":"1987","unstructured":"Cavalier-Smith T. The simultaneous symbiotic origin of mitochondria, chloroplasts and microbodies. Ann NY Acad Sci 1987;503:55-71.","journal-title":"Ann NY Acad Sci"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1146\/annurev.cb.01.110185.002421","article-title":"Biogenesis of peroxisomes","volume":"1","author":"Lazarow, P.B.; Fujiki, Y.","year":"1985","unstructured":"Lazarow PB, Fujiki Y. Biogenesis of peroxisomes. Annu Rev Cell Biol 1985;1:489-530.","journal-title":"Annu Rev Cell Biol"},{"key":"ref_4","article-title":"Import of stably folded proteins into peroxisomes. International symposium. Peroxisomes: biology and role","volume-title":"toxicology and disease, 1995: abstract 002","author":"Walton, P.","unstructured":"Walton P. Import of stably folded proteins into peroxisomes. International symposium. Peroxisomes: biology and role in toxicology and disease, 1995:abstract 002."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1146\/annurev.cb.09.110193.002305","article-title":"Protein import into peroxisomes and biogenesis of the organelle","volume":"9","author":"Subramani, S.","year":"1993","unstructured":"Subramani S. Protein import into peroxisomes and biogenesis of the organelle. Annu Rev CellBiol 1993;9:445-78.","journal-title":"Annu Rev CellBiol"},{"key":"ref_6","first-page":"1657","article-title":"A conserved tripeptide sorts proteins to peroxisomes. T7 Cell Biol","volume":"108","author":"Gould, S.J.; Keller, G.A.; Hoskin, N.; Wilkinson, J.; Subramani, S.","year":"1989","unstructured":"Gould SJ, Keller GA, Hoskin N, Wilkinson J, Subramani S. A conserved tripeptide sorts proteins to peroxisomes. T7 Cell Biol 1989;108:1657-64."},{"key":"ref_7","first-page":"3255","article-title":"A novel, cleavable peroxisomal targeting signal at the amino-terminus of the rat 3-ketoacyl-CoA thiolase","author":"Swinkels, B.W.; Gould, S.J.; Bodnar, A.G.; Rachubinski, R.A.; Subramani, S.","unstructured":"Swinkels BW, Gould SJ, Bodnar AG, Rachubinski RA, Subramani S. A novel, cleavable peroxisomal targeting signal at the amino-terminus of the rat 3-ketoacyl-CoA thiolase. EMBO0 1991,10:3255-62."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1289\/ehp.9193205","article-title":"An overview of peroxisome proliferatorinduced hepatocarcinogenesis","volume":"93","author":"Rao, M.S.; Reddy, J.K.","year":"1991","unstructured":"Rao MS, Reddy JK. An overview of peroxisome proliferatorinduced hepatocarcinogenesis. Environ Health Perspect 1991;93:205-9.","journal-title":"Environ Health Perspect"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1002\/yea.320030204","article-title":"Proliferation of microbodies in Saccharomyces cerevisiae","volume":"3","author":"Veenhuis, M.; Mateblowski, M.; Kunau, W.H.; Harder, W.","year":"1987","unstructured":"Veenhuis M, Mateblowski M, Kunau WH, Harder W. Proliferation of microbodies in Saccharomyces cerevisiae. Yeast 1987;3:77-84.","journal-title":"Yeast"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1146\/annurev.bi.61.070192.001105","article-title":"Biochemistry of peroxisomes","volume":"61","author":"den Bosch H, Van; RBH, Schutgens; RJA, Wanders; TagerJM","year":"1992","unstructured":"Van den Bosch H, Schutgens RBH, Wanders RJA, TagerJM. Biochemistry of peroxisomes. Annu Rev Biochemn 1992;61: 157-97.","journal-title":"Annu Rev Biochemn"},{"key":"ref_11","first-page":"402","article-title":"A familial syndrome of multiple congenital defects. Bull J7ohns Hopkins Hosp","volume":"114","author":"Bowen, P.; Lee, C.S.N.; Zellweger, H.; Lindenberg, R.","year":"1964","unstructured":"Bowen P, Lee CSN, Zellweger H, Lindenberg R. A familial syndrome of multiple congenital defects. Bull J7ohns Hopkins Hosp 1964;114:402-14."},{"key":"ref_12","first-page":"144","article-title":"The Zellweger syndrome (cerebro-hepato-renal syndrome)","volume":"2","author":"Opitz, J.M.; ZuRhein, G.M.; Vitale, L.","year":"1969","unstructured":"Opitz JM, ZuRhein GM, Vitale L, et al. The Zellweger syndrome (cerebro-hepato-renal syndrome). Birth Defects 1969;V(2): 144-60.","journal-title":"Birth Defects"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1126\/science.182.4107.62","article-title":"Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome","volume":"182","author":"Goldfischer, S.; Moore, C.L.; Johnson, A.B.","year":"1973","unstructured":"Goldfischer S, Moore CL, Johnson AB, et al. Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome. Scienice 1973;182:62-4.","journal-title":"Scienice"},{"key":"ref_14","first-page":"2287","article-title":"Disorders of peroxisome biogenesis","volume-title":"The mletabolic anid mnolecular basis of inherited disease","author":"Lazarow, P.B.; Moser, H.W.","year":"1995","unstructured":"Lazarow PB, Moser HW. Disorders of peroxisome biogenesis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The mletabolic anid mnolecular basis of inherited disease. 7th ed. New York: McGraw-Hill, 1995:2287-324.","edition":"7th ed"},{"key":"ref_15","first-page":"25","article-title":"Pseudo-Zellwegers syndrome: deficiencies in several peroxisomal oxidative activities","volume":"108","author":"Goldfisher, S.; Collins, J.; Rapin, I.","year":"1986","unstructured":"Goldfisher S, Collins J, Rapin I, et al. Pseudo-Zellwegers syndrome: deficiencies in several peroxisomal oxidative activities. 7 Pediatr 1986;108:25-32."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"2494","DOI":"10.1073\/pnas.84.8.2494","article-title":"Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency","volume":"84","author":"Schram, A.W.; Goldfischer, S.; van Roermund, C.W.T.","year":"1987","unstructured":"Schram AW, Goldfischer S, van Roermund CWT, et al. Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency. Proc Natl Acad Sci USA 1987;84:2494-6.","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref_17","first-page":"422","article-title":"A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy)","volume":"42","author":"Poll-The, B.T.; Roels, F.; Ogier, H.","year":"1988","unstructured":"Poll-The BT, Roels F, Ogier H, et al. 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Dev Med Child Neurol 1987;29:821-5.","journal-title":"Dev Med Child Neurol"},{"key":"ref_20","first-page":"89","article-title":"Chondrodysplasia punctata - rhizomelic form: pathologic and radiologic studies of three infants","volume":"12","author":"Gilbert, E.F.; Opitz, J.M.; Spranger, J.W.; LO, Jr, Langer; Wolfson, J.J.; Viseskul, C.","year":"1976","unstructured":"Gilbert EF, Opitz JM, Spranger JW, Langer LO Jr, Wolfson JJ, Viseskul C. Chondrodysplasia punctata - rhizomelic form: pathologic and radiologic studies of three infants. Eur _J Pediatr 1976;12:89-109.","journal-title":"Eur _J Pediatr"},{"key":"ref_21","first-page":"1097","article-title":"Peroxisomes of normal morphology but deficient in 3-oxoacyl-CoA thiolase in rhizomelic chondrodysplasia punctata","volume":"62","author":"Heikoop, J.C.; Van den Berg, M.; Strijland, A.","year":"1991","unstructured":"Heikoop JC, Van den Berg M, Strijland A, et al. 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Arch Dis Child 1993;68:415-17.","journal-title":"Arch Dis Child"},{"key":"ref_23","article-title":"Med Genet","unstructured":"Med Genet (in press)."},{"key":"ref_24","first-page":"2287","article-title":"Disorders of peroxisome biogenesis","volume-title":"The mtietabolic anzd nmolecular basis of inherited disease","author":"Lazarow, P.B.; Moser, H.W.","year":"1995","unstructured":"Lazarow PB, Moser HW. Disorders of peroxisome biogenesis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The mtietabolic anzd nmolecular basis of inherited disease. 7th ed. New York: McGraw-Hill, 1995:2287-324.","edition":"7th ed"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1007\/BF00686900","article-title":"Cerebrohepatorenal syndrome of Zellweger: an inherited disorder of neuronal migration","volume":"41","author":"Volpe, J.J.; Adams, R.D.","year":"1972","unstructured":"Volpe JJ, Adams RD. Cerebrohepatorenal syndrome of Zellweger: an inherited disorder of neuronal migration. Acta Neuropatol (Berl) 1972;41:175.","journal-title":"Acta Neuropatol (Berl)"},{"key":"ref_26","first-page":"691","article-title":"Cerebro-hepato-renal syndrome: a newly recognized hereditary disorder of multiple congenital defects, including sudanophilic leukodystrophy, cirrhosis of the liver, and polycystic kidneys","volume-title":"T Pediatr","volume":"71","author":"Passarge, E.; McAdams, A.J.","year":"1967","unstructured":"Passarge E, McAdams AJ. Cerebro-hepato-renal syndrome: a newly recognized hereditary disorder of multiple congenital defects, including sudanophilic leukodystrophy, cirrhosis of the liver, and polycystic kidneys. T Pediatr 1967;71:691-702."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/0300-9084(93)90088-A","article-title":"Human liver pathology in peroxisomal diseases: a review including novel data","volume":"75","author":"Roels, F.; Espeel, M.; Poggi, F.","year":"1993","unstructured":"Roels F, Espeel M, Poggi F, et al. Human liver pathology in peroxisomal diseases: a review including novel data. Biochimie 1993;75:281-92.","journal-title":"Biochimie"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1111\/j.1399-0004.1975.tb00350.x","article-title":"The evaluation of infants with the Zellweger (cerebro-hepatorenal) syndrome","volume":"7","author":"Gilchrist, K.W.; Gilbert, E.F.; Shahidi, N.T.; Opitz, J.M.","year":"1975","unstructured":"Gilchrist KW, Gilbert EF, Shahidi NT, Opitz JM. The evaluation of infants with the Zellweger (cerebro-hepatorenal) syndrome. Clin Genet 1975;7:413-16.","journal-title":"Clin Genet"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1007\/BF00734851","article-title":"Striated adrenocortical cells in cerebrohepatorenal (Zellweger) syndrome","volume":"401","author":"Goldfischer, S.; Powers, J.M.; Johnston, A.B.; Axe, S.; Brown, F.R.; Moser, H.W.","year":"1983","unstructured":"Goldfischer S, Powers JM, Johnston AB, Axe S, Brown FR, Moser HW. Striated adrenocortical cells in cerebrohepatorenal (Zellweger) syndrome. Virchows Archiv 1983;401:355.","journal-title":"Virchows Archiv"},{"issue":"1","key":"ref_30","first-page":"17","article-title":"Clinical recognition of patients affected by a peroxisomal disorder: a retrospective study in 40 patients","volume":"151","author":"Theil, A.C.; Schutgens, R.B.H.; Wanders, R.J.A.; Heymans, H.S.A.","year":"1992","unstructured":"Theil AC, Schutgens RBH, Wanders RJA, Heymans HSA. Clinical recognition of patients affected by a peroxisomal disorder: a retrospective study in 40 patients. EurJ7 Pediatr 1992;151:1 17-20."},{"key":"ref_31","article-title":"Zellweger syndrome: lenticular opacities indicating carrier status and lens abnormalities characteristic of homozygotes","volume":"99","author":"Hittner, H.M.; Dretzer, F.L.; Mehta, R.S.","year":"1981","unstructured":"Hittner HM, Dretzer FL, Mehta RS. Zellweger syndrome: lenticular opacities indicating carrier status and lens abnormalities characteristic of homozygotes. Arch Ophthalnmol 1981;99:1977.","journal-title":"Arch Ophthalnmol"},{"key":"ref_32","first-page":"313","article-title":"The cerebro-hepato-renal syndrome (CHRS): (Zellweger's syndrome)","volume":"109","author":"Poznanski, A.K.; Nosanchuk, J.S.; Baublis, J.; Holt, J.F.","year":"1970","unstructured":"Poznanski AK, Nosanchuk JS, Baublis J, Holt JF. The cerebro-hepato-renal syndrome (CHRS): (Zellweger's syndrome). AJ7R 1970;109:313-22."},{"key":"ref_33","article-title":"Cerebrohepatorenal (Zellweger) syndromie: clinical and biochemzical consequences of peroxisome dysfunction","author":"Heymanns, H.S.A.","year":"1984","unstructured":"Heymanns HSA. Cerebrohepatorenal (Zellweger) syndromie: clinical and biochemzical consequences of peroxisome dysfunction. Thesis, University of Amsterdam, 1984."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"5598","DOI":"10.1021\/bi00072a015","article-title":"Gonzalez FJ. cDNA cloning, chromosomal mapping, and functional characterization of the human peroxisome proliferator activated receptor","volume":"32","author":"Sher, T.; Yi, H.F.; McBride, O.W.","year":"1993","unstructured":"Sher T, Yi HF, McBride OW, Gonzalez FJ. cDNA cloning, chromosomal mapping, and functional characterization of the human peroxisome proliferator activated receptor. Biochemzistry 1993;32:5598-604.","journal-title":"Biochemzistry"},{"key":"ref_35","first-page":"617","article-title":"A syndrome of multiple developmental defects including polycystic kidneys and intrahepatic biliary dysgenesis in 2 siblings","volume":"67","author":"Smith, D.W.; Opitz, J.M.; Inhorn, S.L.","year":"1965","unstructured":"Smith DW, Opitz JM, Inhorn SL. A syndrome of multiple developmental defects including polycystic kidneys and intrahepatic biliary dysgenesis in 2 siblings. JPediatr 1965; 67:617-24."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1016\/S0022-3476(67)80205-1","article-title":"Cerebro-hepato-renal syndrome: a newly recognized hereditary disorder of multiple congenital defects, including sudanophilic leukodystrophy, cirrhosis of the liver, and polycystic kidneys","volume":"71","author":"Passarge, E.; McAdams, A.J.","year":"1967","unstructured":"Passarge E, McAdams AJ. Cerebro-hepato-renal syndrome: a newly recognized hereditary disorder of multiple congenital defects, including sudanophilic leukodystrophy, cirrhosis of the liver, and polycystic kidneys. J Pediatr 1967;71:691-702.","journal-title":"J Pediatr"},{"key":"ref_37","first-page":"201","article-title":"Zellweger syndrome and a microdeletion of the proximal long arm","volume-title":"of chromosome 7. Hum Genet","volume":"80","author":"Naritomi, K.; Hyakuna, N.; Suzuki, Y.; Orii, T.; Hirayama, K.","year":"1988","unstructured":"Naritomi K, Hyakuna N, Suzuki Y, Orii T, Hirayama K. Zellweger syndrome and a microdeletion of the proximal long arm of chromosome 7. Hum Genet 1988;80:201-2."},{"key":"ref_38","first-page":"79","article-title":"Gene assignment of Zellweger syndrome to 7ql 1.23: report of the second case associated with a pericentric inversion","volume-title":"of chromosome 7. Humn Genet","volume":"84","author":"Naritomi, K.; Izumikawa, Y.; Ohshiro, S.","year":"1989","unstructured":"Naritomi K, Izumikawa Y, Ohshiro S, et al. Gene assignment of Zellweger syndrome to 7ql 1.23: report of the second case associated with a pericentric inversion of chromosome 7. Humn Genet 1989;84:79-80."},{"key":"ref_39","first-page":"338","article-title":"A milder variant of Zellweger syndrome","volume-title":"Eur I Pediatr","volume":"144","author":"Barth, P.G.; Schutgens, R.B.H.; Bakkeren, J.A.J.M.","year":"1985","unstructured":"Barth PG, Schutgens RBH, Bakkeren JAJM, et al. A milder variant of Zellweger syndrome. Eur I Pediatr 1985;144: 338-42."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1111\/j.1399-0004.1986.tb01242.x","article-title":"Long term survival of a patient with the cerebro-hepato-renal (Zellweger) syndrome","volume":"29","author":"Bleeker-Wagemakers, E.M.; Oorthuys, J.W.E.; Wanders, R.J.A.; Schutgens, R.B.H.","year":"1986","unstructured":"Bleeker-Wagemakers EM, Oorthuys JWE, Wanders RJA, Schutgens RBH. Long term survival of a patient with the cerebro-hepato-renal (Zellweger) syndrome. Clin Genet 1986;29: 160-4.","journal-title":"Clin Genet"},{"key":"ref_41","series-title":"Histochem Cytochem","first-page":"1471","article-title":"Cytochemistry of human catalase","volume":"27","author":"Roels, F.; Goldfischer, S.","year":"1979","unstructured":"Roels F, Goldfischer S. Cytochemistry of human catalase. T Histochem Cytochem 1979;27: 1471-7."},{"key":"ref_42","first-page":"317","article-title":"Preand postnatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome via a simple method directly demonstrating the presence or absence of peroxisomes in cultures skin fibroblasts, amniocytes or chorionic villus fibroblasts. _7 Inherit Metab Dis 1986; 9(suppl 2)","author":"Wanders, R.J.A.; Schrakamp, G.; van den Bosch, H.","unstructured":"Wanders RJA, Schrakamp G, van den Bosch H, et al. Preand postnatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome via a simple method directly demonstrating the presence or absence of peroxisomes in cultures skin fibroblasts, amniocytes or chorionic villus fibroblasts. _7 Inherit Metab Dis 1986;9(suppl 2):317."},{"key":"ref_43","first-page":"180","article-title":"Measurement of saturated very long chain fatty acids in plasma. In: Techniques in diagnostic humnan biochenmical genetics: a laboratory nmaniual","author":"Moser, H.W.; Moser, A.","year":"1991","unstructured":"Moser HW, Moser A. Measurement of saturated very long chain fatty acids in plasma. In: Techniques in diagnostic humnan biochenmical genetics: a laboratory nmaniual. New York: Wiley-Liss, 1991:180-91."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1038\/306069a0","article-title":"Severe plasmalogen deficiency in the tissues of infants without peroxisomes (Zellweger syndrome)","volume":"306","author":"Heymans, H.S.A.; Schutgens, R.B.H.; Tan, R.; van den Bosch, H.; Borst, P.","year":"1983","unstructured":"Heymans HSA, Schutgens RBH, Tan R, van den Bosch H, Borst P. Severe plasmalogen deficiency in the tissues of infants without peroxisomes (Zellweger syndrome). Nature 1983;306:69-7 1.","journal-title":"Nature"},{"key":"ref_45","first-page":"194","article-title":"Measurement of phytanic acid levels. In: Techniques in diagnostic humlan biochenmical genetics: a laboratory manual","author":"Moser, H.W.; Moser, A.","year":"1991","unstructured":"Moser HW, Moser A. Measurement of phytanic acid levels. In: Techniques in diagnostic humlan biochenmical genetics: a laboratory manual. New York: Wiley-Liss, 1991:194-203."},{"key":"ref_46","first-page":"205","article-title":"Quantification of pipecolic acid in plasma and urine by isotope-dilution gas chromatography\/mass spectrometry. In: Techniques in diagnostic hunman biochenmical genetics: a laboratory manual","author":"Kelley, R.I.","year":"1991","unstructured":"Kelley RI. Quantification of pipecolic acid in plasma and urine by isotope-dilution gas chromatography\/mass spectrometry. In: Techniques in diagnostic hunman biochenmical genetics: a laboratory manual. New York: Wiley-Liss, 1991: 205-18."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1203\/00006450-198807000-00016","article-title":"Zellweger syndrome amniocytes: morphological appearance and a simple sedimentation method for prenatal diagnosis","volume":"24","author":"Lazarow, P.B.; Small, G.M.; Santos, M.","year":"1988","unstructured":"Lazarow PB, Small GM, Santos M, et al. Zellweger syndrome amniocytes: morphological appearance and a simple sedimentation method for prenatal diagnosis. Pediatr Res 1988;24:63-7.","journal-title":"Pediatr Res"},{"key":"ref_48","first-page":"242","article-title":"Effecy of glyceral trioleate (GTO) milk formula administration on VLCFA levels and clinical course in a patient with Zellweger syndrome. SSIEM 32nd","author":"Tylki-Szymanska, A.; Stradomska, T.J.","year":"1994","unstructured":"Tylki-Szymanska A, Stradomska TJ. Effecy of glyceral trioleate (GTO) milk formula administration on VLCFA levels and clinical course in a patient with Zellweger syndrome. SSIEM 32nd Annual Synmposiunm 1994:242 (abstract 170).","journal-title":"Annual Synmposiunm"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1002\/ajmg.1320240109","article-title":"Zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy","volume":"24","author":"Wilson, G.N.; Holmes, R.G.; Custer, J.","year":"1986","unstructured":"Wilson GN, Holmes RG, Custer J, et al. Zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy. Am _7 Med Geniet 1986;24:69-82.","journal-title":"Am _7 Med Geniet"},{"key":"ref_50","first-page":"596","article-title":"Peroxisomal assembly defects: clinical, pathologic and biochemical findings in two patients in a newly identified complementation group..7 Pediatr","volume":"127","author":"Poulos, A.; Christodoulou, J.; Chow, C.W.","year":"1995","unstructured":"Poulos A, Christodoulou J, Chow CW, et al. Peroxisomal assembly defects: clinical, pathologic and biochemical findings in two patients in a newly identified complementation group..7 Pediatr 1995;127:596-9."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"1132","DOI":"10.1126\/science.1546315","article-title":"A human gene responsible for Zellweger syndrome that affects peroxisome assembly","volume":"255","author":"Shimozawa, N.; Tsukamoto, T.; Suzuki, Y.; Shirayoshi, Y.; Mori, T.; Fujiki, Y.","year":"1992","unstructured":"Shimozawa N, Tsukamoto T, Suzuki Y, Shirayoshi Y, Mori T, Fujiki Y. A human gene responsible for Zellweger syndrome that affects peroxisome assembly. Science 1992; 255:1132-4.","journal-title":"Science"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1038\/ng0295-115","article-title":"Mutations in the PTSI receptor gene, PXR I, define complementation group 2 of the peroxisomal biogenesis disorders","volume":"9","author":"Dodt, G.; Braverman, N.; Wong, C.","year":"1995","unstructured":"Dodt G, Braverman N, Wong C, et al. Mutations in the PTSI receptor gene, PXR I, define complementation group 2 of the peroxisomal biogenesis disorders. Nat Genet 1995; 9:115-24.","journal-title":"Nat Genet"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1038\/ng0492-16","article-title":"Mutations in the 70 kD peroxisomal membrane protein gene in Zellwegers syndrome","volume":"1","author":"Gartner, J.; Moser, H.W.; Valle, D.","year":"1992","unstructured":"Gartner J, Moser HW, Valle D. Mutations in the 70 kD peroxisomal membrane protein gene in Zellwegers syndrome. Nat Genet 1992;1:16-23.","journal-title":"Nat Genet"},{"key":"ref_54","first-page":"613","article-title":"Development of the yeast Pichia pastoris as a model organism for a genetic and molecular analysis of peroxisome assembly","author":"Gould, S.J.; McCollum, D.; Spong, A.P.; Heyman, J.A.; Subramani, S.","unstructured":"Gould SJ, McCollum D, Spong AP, Heyman JA, Subramani S. Development of the yeast Pichia pastoris as a model organism for a genetic and molecular analysis of peroxisome assembly. Yeast 1992,8:613-28."},{"key":"ref_55","article-title":"Cloning of peroxisome assembly factor-2. International symiposiumi. Peroxisonmes: biolog and role in toxicology","author":"Tsukamoto, T.; Osumi, T.","year":"1995","unstructured":"Tsukamoto T, Osumi T. Cloning of peroxisome assembly factor-2. International symiposiumi. Peroxisonmes: biolog and role in toxicology and disease, 1995, poster abstract 008.","journal-title":"and disease; poster abstract 008"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1006\/geno.1995.1077","article-title":"Isolation and characterisation of rat and human cDNAs encoding a novel putative peroxisomal enoyl CoA hydratase","volume":"27","author":"FitzPatrick, D.R.; Germain-Lee, E.; Valle, D.","year":"1995","unstructured":"FitzPatrick DR, Germain-Lee E, Valle D. Isolation and characterisation of rat and human cDNAs encoding a novel putative peroxisomal enoyl CoA hydratase. Genomiics 1995;27:457-66.","journal-title":"Genomiics"},{"key":"ref_57","first-page":"94","article-title":"A new complementation assay for peroxisome deficient cell-lines..7 Inherit Metab Dis","volume":"19","author":"FitzPatrick, D.R.; Valle, D.","year":"1996","unstructured":"FitzPatrick DR, Valle D. 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