Odd‐numbered long‐chain fatty acid contents in erythrocyte membrane phospholipids in patients with an impaired propionate utilization (English)
- New search for: Wendel, U.
- New search for: Diekmann, E.
- New search for: Laryea, M. D.
- New search for: Wendel, U.
- New search for: Diekmann, E.
- New search for: Laryea, M. D.
In:
Journal of Inherited Metabolic Disease
;
11
;
225-228
;
1988
- Article (Journal) / Electronic Resource
-
Title:Odd‐numbered long‐chain fatty acid contents in erythrocyte membrane phospholipids in patients with an impaired propionate utilization
-
Contributors:
-
Published in:Journal of Inherited Metabolic Disease ; 11 ; 225-228
-
Publisher:
- New search for: Kluwer Academic Publishers
-
Publication date:1988-06-01
-
Size:4 pages
-
ISSN:
-
DOI:
-
Type of media:Article (Journal)
-
Type of material:Electronic Resource
-
Language:English
-
Source:
Table of contents – Volume 11
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 1
-
Preface — Inherited metabolic disease 25 years onPollitt, R. J. / Addison, G. M. / Harkness, R. A. et al. | 1988
- 3
-
Characterization of α‐mannosidase in feline mannosidosisRaghavan, S. / Stuer, G. / Riviere, L. / Alroy, J. / Kolodny, E. H. et al. | 1988
- 4
-
The biochemistry of lipoproteinsSalter, A. M. / Brindley, D. N. et al. | 1988
- 16
-
Book received| 1988
- 17
-
Human β‐mannosidase deficiency: Biochemical findings in plasma, fibroblasts, white cells and urineCooper, A. / Hatton, C. / Thornley, M. / Sardharwalla, I. B. et al. | 1988
- 18
-
Clinical consequences of hyperlipidaemiaThompson, G. R. et al. | 1988
- 29
-
Lipase deficienciesGreten, H. / Beil, F. U. et al. | 1988
- 30
-
Biochemical characterization of patients and prenatal diagnosis of sialic acid storage disease for three familiesClements, P. R. / Taylor, J. A. / Hopwood, J. J. et al. | 1988
- 33
-
The use of recombinant DNA techniques for the diagnosis of familial hypercholesterolaemiaHumphries, S. / Taylor, R. / Jeenah, M. / Seed, M. et al. | 1988
- 45
-
Newborn urine screening experience with over one million infants in the Quebec Network of Genetic MedicineLemieux, B. / Auray‐Blais, C. / Giguère, R. / Shapcott, D. / Scriver, C. R. et al. | 1988
- 45
-
Familial LCAT deficiency and fish‐eye diseaseMcIntyre, N. et al. | 1988
- 56
-
Cerebrotendinous xanthomatosis: A review of biochemical findings of the patient population in the netherlandsKoopman, B. J. / Wolthers, B. G. / van der Molen, J. C. / van der Slik, W. / Waterreus, R. J. / van Spreeken, A. et al. | 1988
- 57
-
Biochemical, clinical, genetic and metabolic studies of hyperapo‐β‐lipoproteinaemiaKwiterovich, P. O. Jr. et al. | 1988
- 74
-
Apolipoprotein polymorphism and multifactorial hyperlipidaemiaUtermann, G. et al. | 1988
- 76
-
3‐hydroxy‐3‐methylglutaryl‐coenzyme a lyase deficiency: Report of five new patientsGibson, K. M. / Breuer, J. / Kaiser, K. / Nyhan, W. L. / McCoy, E. E. / Ferreira, P. / Greene, C. L. / Blitzer, M. G. / Shapira, E. / Reverte, F. et al. | 1988
- 87
-
A neonatal screening approach to the detection of familial hypercholesterolaemia and family‐based coronary preventionWilcken, D. E. L. / Blades, B. L. / Dudman, N. P. B. et al. | 1988
- 88
-
Cockayne syndrome: Magnetic resonance images of the brain in a severe form with early onsetNishio, H. / Kodama, S. / Matsuo, T. / Ichihashi, M. / Ito, H. / Fujiwara, Y. et al. | 1988
- 91
-
The paediatric lipid clinic in BirminghamTarlow, M. / Green, A. / Worthington, D. / Buchanan, E. et al. | 1988
- 94
-
Recent advances in cystic fibrosisMcPherson, M. A. et al. | 1988
- 103
-
The effects of fetal energy depletion on amniotic fluid concentrations of amino acids, organic acids and related metabolitesHarkness, R. A. / Purkiss, P. / Duffy, S. / Chalmers, R. A. / Jones, M. et al. | 1988
- 110
-
IntroductionBrenton, D. P. / Seakins, J. W. et al. | 1988
- 111
-
Antenatal diagnosis and the termination of pregnancy — What the churches have to sayHoltam, Rev N. R. et al. | 1988
- 114
-
Biochemical genetics of HPRTCapeTown: is the defect in the HPRT gene?Galloon, T. / Harley, E. H. et al. | 1988
- 120
-
Ethics and clinical practiceGillon, R. et al. | 1988
- 123
-
First trimester prenatal diagnosis of metachromatic leukodystrophy on chorionic villi by ‘Immunoprecipitation—electrophoresis’Poenaru, L. / Castelnau, L. / Besançon, A‐M. / Nicolesco, H. / Akli, S. / Theophil, D. et al. | 1988
- 125
-
Discussion| 1988
- 130
-
Society for the study of inborn errors of metabolism| 1988
- 131
-
Neutral lipid storage disease with ichthyosis: Lipid content and metabolism of fibroblastsWilliams, M. L. / Monger, D. J. / Rutherford, S. L. / Hincenbergs, M. / Rehfeld, S. J. / Grunfeld, C. et al. | 1988
- 131
-
Preface to short communicationsPollitt, R. J. / Harkness, R. A. / Addison, G. M. et al. | 1988
- 132
-
Free Communications| 1988
- 135
-
An erroneous apolipoprotein e‐3 band in high density lipoprotein fractionsRawlings, A. V. / Deegan, T. et al. | 1988
- 139
-
Histochemical abnormalities in liver and jejunal biopsies from a case of cholesterol ester storage diseaseLageron, A. / Polonovski, J. et al. | 1988
- 143
-
Cholesteryl ester storage disease: Risk factors for atherosclerosis in a 15‐year‐old boyLonghi, R. / Vergani, C. / Valsasina, R. / Riva, E. / Galluzzo, C. / Agostoni, C. / Giovannini, M. et al. | 1988
- 144
-
Phospholipids accumulation in mucolipidosis IV cultured fibroblastsBargal, R. / Bach, G. et al. | 1988
- 146
-
Cholesteryl ester storage disease with secondary lecithin cholesterol acyl transferase deficiencyVan Erum, S. / Gnat, D. / Finne, C. / Blum, D. / Vanhelleput, C. / Vamos, E. / Vertongen, F. et al. | 1988
- 149
-
A treatable familial neuromyopathy with vitamin E deficiency, normal absorption, and evidence of increased consumption of vitamin EKohlschütter, A. / Hübner, C. / Jansen, W. / Lindner, S. G. et al. | 1988
- 151
-
Evidence for both endogenous and exogenous sources of the sphingomyelin storage in lymphoid cell lines from patients with Niemann‐Pick disease types A and BLevade, T. / Salvayre, R. / Maret, A. / Douste‐Blazy, L. et al. | 1988
- 153
-
Fat malabsorption, vitamin E deficiency, scoliosis and cataractsGriffiths, R. D. / Taylor, C. J. / Isherwood, D. M. / Jackson, M. J. et al. | 1988
- 155
-
Familial high‐density lipoprotein deficiency (tangier disease): The third Italian caseBracco, G. / Dotti, G. / Levis, F. / David, E. / Saracco, G. / Rizzetto, M. / Verme, G. et al. | 1988
- 158
-
Failure of taurine to improve fat absorption in cystic fibrosisThompson, G. N. et al. | 1988
- 158
-
Carrier detection for sanfilippo A syndromeMatalon, R. / Deanching, M. / Marback, R. / Michals, K. et al. | 1988
- 161
-
Prolidase deficiency: A patient without hydroxyproline‐containing iminodipeptides in urineWysocki, S. J. / Hahnel, R. / Mahoney, T. / Wilson, R. G. / Panegyres, P. K. et al. | 1988
- 161
-
Peroxisomes and peroxisomal functions in hyperpipecolic acidaemiaWanders, R. J. A. / van Roermund, C. W. T. / van Wijland, M. J. A. / Schutgens, R. B. H. / Tager, J. M. / van den Bosch, H. / Thomas, G. H. et al. | 1988
- 165
-
Bile acid analyses in “pseudo‐Zellweger” syndrome; clues to the defect in peroxisomal β‐oxidationClayton, P. T. / Lake, B. D. / Hjelm, M. / Stephenson, J. B. P. / Besley, G. T. N. / Wanders, R. J. A. / Schram, A. W. / Tager, J. M. / Schutgens, R. B. H. / Lawson, A. M. et al. | 1988
- 166
-
Biochemical studies on prolidase in sera from control, patients with prolidase deficiency and their motherOhhashi, T. / Ohno, T. / Arata, J. / Kodama, H. et al. | 1988
- 169
-
Adrenomyeloneurodystrophy with late cerebral involvement and evidence of a multiple autoimmune disorderFederico, A. / Dotti, M. T. / Annunziata, P. / Bonuccelli, U. / Fenzi, G. / Ciacci, G. / Malandrini, A. / Meucci, G. / Guazzi, G. C. et al. | 1988
- 173
-
X‐linked adrenoleukodystrophy: Identification of the primary defect at the level of a deficient peroxisomal very long chain fatty acyl‐CoA synthetase using a newly developed method for the isolation of peroxisomes from skin fibroblastsWanders, R. J. A. / van Roermund, C. W. T. / van Wijland, M. J. A. / Schutgens, R. B. H. / Schram, A. W. / Tager, J. M. / van den Bosch, H. / Schalkwijk, C. et al. | 1988
- 173
-
Book reviewHarkness, R. A. et al. | 1988
- 174
-
Substrate inhibition of adenosine phosphorylation in adenosine deaminase deficiency and adenosine‐mediated inhibition of PP‐ribose‐P dependent nucleotide synthesis in hypoxanthine phosphoribosyltransferase deficient erythrocytesSnyder, F. F. / Dyer, C. / Seegmiller, J. E. / Goldblum, R. M. / Mills, G. C. / Schmalstieg, F. C. et al. | 1988
- 178
-
Infanto‐juvenile encephaloneuropathy and pigmentary retinopathy in a girl associated with congenital adrenal insufficiency and altered plasma medium‐chain fatty acid levelsFederico, A. / Baracchini, G. / Dotti, M. T. / Ibba, L. / Malandrini, A. / Ciacci, G. / Meloni, M. / Palmeri, S. / Pompella, A. / Guazzi, G. C. et al. | 1988
- 183
-
Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6–C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?Poll‐The, B. T. / Bonnefont, J. P. / Ogier, H. / Charpentier, C. / Pelet, A. / Le Fur, J. M. / Jakobs, C. / Kok, R. M. / Duran, M. / Divry, P. et al. | 1988
- 184
-
Abetalipoproteinaemia in adults: Role of vitamin therapyMacGilchrist, A. J. / Mills, P. R. / Noble, M. / Foulds, W. S. / Simpson, J. A. / Watkinson, G. et al. | 1988
- 186
-
A new type of mitochondrial encephalomyopathy with stroke‐like episodes due to cytochrome oxidase deficiencyMaertens, P. / Richardson, R. / Bastian, F. / Williams, J. P. / Hommes, F. et al. | 1988
- 189
-
Cytochromec oxidase deficiency in three patients with Leigh's diseaseDi Rocco, M. / Veneselli, E. / Ciccone, M. O. / Taccone, A. / Stroppiano, M. / Cottafava, F. et al. | 1988
- 191
-
N‐acetylglutamate synthetase deficiency, a second patientBachmann, C. / Brandis, M. / Weissenbarth‐Riedel, E. / Burghard, R. / Colombo, J. P. et al. | 1988
- 193
-
Histochemical, ultrastructural and biochemical study of muscle mitochondria in Leber's hereditary optic atrophyFederico, A. / Manneschi, L. / Meloni, M. / Alessandrini, C. / Bardelli, A. M. / Dotti, M. T. / Sabatelli, P. et al. | 1988
- 194
-
Amniotic fluid glycoasparagines in fetal aspartylglycosaminuriaMononen, I. / Kaartinen, V. / Mononen, T. et al. | 1988
- 198
-
Erratum to book review| 1988
- 198
-
Morphometric and biochemical study of muscle mitochondria in adult chronic progressive external ophthalmoplegiaFederico, A. / Manneschi, L. / Sabatelli, P. / Dotti, M. T. / Ciacci, G. / Ibba, L. / Gerli, R. et al. | 1988
- 199
-
Group work with adolescent PKU girls and their mothersCohen, B. E. / Weiss, R. / Hadar, R. / Normand, M. / Shiloh, S. / Elhanati, D. et al. | 1988
- 202
-
Cytochromec oxidase: Organ‐specific isoenzymes and deficienciesSinjorgo, K. M. C. / Hakvoort, T. B. M. / Muijsers, A. O. / Schram, A. W. / Tager, J. M. et al. | 1988
- 205
-
Enzymatic heterogeneity in primary hyperoxaluria type 1 (hepatic peroxisomal alanine: Glyoxylate aminotransferase deficiency)Danpure, C. J. / Jennings, P. R. et al. | 1988
- 207
-
Fatal lactic acidosis due to deficiency of E1 component of the pyruvate dehydrogenase complexBirch‐Machin, M. A. / Shepherd, I. M. / Solomon, M. / Yeaman, S. J. / Gardner‐Medwin, D. / Sherratt, H. S. A. / Lindsay, J. G. / Aynsley‐Green, A. / Turnbull, D. M. et al. | 1988
- 208
-
Diversity in residual alanine glyoxylate aminotransferase activity in hyperoxaluria type I: Correlation with pyridoxine responsivenessWanders, R. J. A. / van Roermund, C. W. T. / Jurriaans, S. / Schutgens, R. B. H. / Tager, J. M. / van den Bosch, H. / Wolff, E. D. / Przyrembel, H. / Berger, R. / Schaaphok, F. G. et al. | 1988
- 212
-
The subcellular metabolism of glyoxylate in primary hyperoxaluria type 1: The relationship between glycine production and oxalate overproductionThompson, G. N. / Purkiss, P. / Danpure, C. J. et al. | 1988
- 215
-
Primary hyperoxaluria andl‐glyceric aciduria in the catBlakemore, W. F. / Heath, M. F. / Bennett, M. J. / Cromby, C. H. / Pollitt, R. J. et al. | 1988
- 218
-
Transient diabetes mellitus in neonatal methylmalonic aciduriaMathew, P. M. / Hamdan, J. A. et al. | 1988
- 218
-
Clinical effects of serine medication in non‐ketotic hyperglycinaemia due to deficiency of p‐protein of the glycine cleavage complexWijburg, F. A. / de Groot, C. J. / Schutgens, R. B. H. / Barth, P. G. / Tada, K. et al. | 1988
- 219
-
A scandinavian case of isovaleric acidaemiaGerdes, A. ‐M. / Gregersen, N. / Lúdvigsson, P. / Güttler, F. et al. | 1988
- 221
-
Alterations of NAD and adenylyl dinucleotide metabolism in Chediak‐Higashi Syndrome fibroblastsBaker, J. C. / Ames, B. N. et al. | 1988
- 221
-
The use of phenylpropionic acid as a loading test for medium‐chain acyl‐CoA dehydrogenase deficiencySeakins, J. W. T. / Rumsby, G. et al. | 1988
- 225
-
Odd‐numbered long‐chain fatty acid contents in erythrocyte membrane phospholipids in patients with an impaired propionate utilizationWendel, U. / Diekmann, E. / Laryea, M. D. et al. | 1988
- 229
-
Mevalonic aciduria: Pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblastsHoffmann, G. / Gibson, K. M. / Nyhan, W. L. / Sweetman, L. et al. | 1988
- 229
-
Biochemical basis of hypoxanthine‐guanine phosphoribosyltransferase deficiency in nine familiesKeough, D. T. / Gordon, R. B. / de Jersey, J. / Emmerson, B. T. et al. | 1988
- 233
-
A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anaemia, thrombocytopenia and leukocytosisde Klerk, J. B. C. / Duran, M. / Dorland, L. / Brouwers, H. A. A. / Bruinvis, L. / Ketting, D. et al. | 1988
- 237
-
A closer look at the eye in homocystinuria: A screened populationBurke, J. P. / O'Keefe, M. / Bowell, R. / Naughten, E. R. et al. | 1988
- 239
-
Lesch‐Nyhan syndrome and its pathogenesis: Purine concentrations in plasma and urine with metabolite profiles in CSFHarkness, R. A. / McCreanor, G. M. / Watts, R. W. E. et al. | 1988
- 240
-
Peptiduria presumably caused by aminopeptidase‐P deficiency. A new inborn error of metabolismBlau, N. / Niederwieser, A. / Shmerling, D. H. et al. | 1988
- 243
-
Early morning urine galactitol levels in relation to galactose intake: A possible method of monitoring the diet in galactokinase deficiencyAllen, J. T. / Holton, J. B. / Lennox, A. C. / Hodges, I. C. et al. | 1988
- 246
-
Cataracts in children with classical galactosaemia and in their parentsBurke, J. P. / O'Keefe, M. / Bowell, R. / Naughten, E. R. et al. | 1988
- 249
-
A patient with severe type of epimerase deficiency galactosaemiaSardharwalla, I. B. / Wraith, J. E. / Bridge, C. / Fowler, B. / Roberts, S. A. et al. | 1988
- 252
-
Branching enzyme in erythrocytes. Detection of type IV glycogenosis homozygotes and heterozygotesShin, Y. S. / Steigüber, H. / Klemm, P. / Endres, W. / Schwab, O. / Wolff, G. et al. | 1988
- 253
-
Use of platelets, mononuclear and polymorphonuclear cells in the diagnosis of glycogen storage disease type VIDahan, N. / Baussan, C. / Moatti, N. / Lemonnier, A. et al. | 1988
- 255
-
β‐Mannosidosis in two brothers with hearing lossDorland, L. / Duran, M. / Hoefnagels, F. E. T. / Breg, J. N. / Fabery de Jonge, H. / Cransberg, K. / van Sprang, F. J. / van Diggelen, O. P. et al. | 1988
- 259
-
Infantile sialic acid storage disease in two siblingsCooper, A. / Sardharwalla, I. B. / Thornley, M. / Ward, K. P. et al. | 1988
- 261
-
Homocitrullinuria and homoargininuria in hyperargininaemiaKato, T. / Sano, M. / Mizutani, N. / Hayakawa, C. et al. | 1988
- 263
-
Evaluation of lysosomal enzymes in uncultured and cultured chorionic villi and amniocytesBartalini, G. / Margollicci, M. A. / Balestri, P. / Fois, A. et al. | 1988
- 266
-
Prolinase activity in prolidase‐deficient fibroblastsMiech, G. / Myara, I. / Mangeot, M. / Voigtlander, V. / Lemonnier, A. et al. | 1988
- 270
-
Biotin‐responsive multiple carboxylase deficiency in an 8‐year‐old boy with normal serum biotinidase and fibroblast holocarboxylase‐synthetase activitiesHolme, E. / Jacobson, C‐E. / Kristiansson, B. et al. | 1988
- 277
-
Aminoacidopathies: A review of 3 years experience of investigations in a Kuwait hospitalYadav, G. C. / Reavey, P. C. et al. | 1988
- 285
-
Serotonin and noradrenaline concentrations and serotonin uptake in platelets from hyperphenylalaninaemic patientsGiovannini, M. / Valsasina, R. / Longhi, R. / Cesura, A. M. / Galva, M. D. / Riva, E. / Bondiolotti, G. P. / Picotti, G. B. et al. | 1988
- 291
-
The effect of oral betaine on vertebral body bone density in pyridoxine‐non‐responsive homocystinuriaGahl, W. A. / Bernardini, I. / Chen, S. / Kurtz, D. / Horvath, K. et al. | 1988
- 299
-
Excretion of phenylpyruvic, 4‐hydroxyphenylpyruvic and indolyl‐3‐acetic acids by the skin fibroblasts from a phenylketonuric childAntoshechkin, A. G. / Zuyeva, L. A. / Maximova, L. A. et al. | 1988
- 303
-
Hepatic metabolites and uric acid excretion in fructose‐1,6‐diphosphatase deficiencyVelázquez, A. / DeCéspedes, C. / DeVivo, D. C. / Costin, G. / Shaw, K. N. F. et al. | 1988
- 304
-
Glyceroluria with adrenocortical insufficiency, developmental delay and early deathSøvik, O. / Jellum, E. / Madsen, B. et al. | 1988
- 306
-
Intrafamilial phenotypic variability in citrullinaemia: Report of a familyIssa, A. R. A. / Yadav, G. / Teebi, A. S. et al. | 1988
- 307
-
N‐Acetylaspartic aciduria: report of three new cases in children with a neurological syndrome associating macrocephaly and leukodystrophyDivry, P. / Vianey‐Liaud, C. / Gay, C. / Macabeo, V. / Rapin, F. / Echenne, B. et al. | 1988
- 309
-
Serum arginine level in neonatal citrullinaemiaMatsoo, M. / Takemine, H. / Aida, M. / Nakamura, H. / Matsuo, T. et al. | 1988
- 310
-
Folates and homocystinuriaFerraris, S. / Bonetti, G. / Biasetti, S. / Bracco, G. / Ponzone, A. et al. | 1988
- 312
-
Laryngeal stridor as a leading symptom in a biotinidase‐deficient patientDionisi‐Vici, C. / Bachmann, C. / Graziani, M. C. / Sabetta, G. et al. | 1988
- 313
-
Isovaleric acidaemia in a premature infant: Diagnosis and treatmentHeimler, R. / Hennes, H. / Khayata, S. / Sasidharan, P. / Matalon, R. et al. | 1988
- 315
-
Enzymatic analysis in lymphocytes and erythrocytes from six patients with different phenotypes of phosphorylase kinase deficiencyKikuchi, M. / Aikawa, J. / Ishizawa, S. / Igarashi, Y. / Narisawa, K. / Tada, K. et al. | 1988
- 319
-
E2‐cDNA cloning and component X of pyruvate dehydrogenase complexMatuda, S. / Nakano, K. / Tabata, I. / Matuo, S. / Saheki, T. et al. | 1988
- 324
-
DNA deletions and recombinations in the gene locus of X‐linked muscular dystrophiesShimmoto, M. / Tsuji, A. / Yang, R.‐C. / Nomura, Y. / Segawa, M. / Suzuki, Y. et al. | 1988
- 329
-
Immunochemical evidence of pyruvate dehydrogenase (E1) deficiencyKitano, A. / Akaboshi, I. / Endo, F. / Matsuda, I. / Okano, Y. / Hase, Y. / Nagao, Y. / Kamoshita, S. / Miyabayashi, S. / Narisawa, K. et al. | 1988
- 333
-
Clinical and molecular heterogeneity in patients with mitochondrial encephalomyopathies due to complex I deficiencyIchiki, T. / Kobayashi, M. / Wada, Y. / Tanaka, M. / Ozawa, T. et al. | 1988
- 337
-
Structural organization of the human ornithine transcarbamylase geneHata, A. / Tsuzuki, T. / Shimada, K. / Takiguchi, M. / Mori, M. / Matsuda, I. et al. | 1988
- 341
-
Successful treatment of maternal phenylketonuria with a formula consisting of low phenylalanine peptide as a protein sourceŌwada, M. / Abe, M. / Ono, M. / Kitagawa, T. / Sato, Y. et al. | 1988
- 345
-
Immunochemical studies of cultured fibroblasts from a patient with 3‐ketothiolase deficiencyYamaguchi, S. / Orii, T. / Sakura, N. / Miyazawa, S. / Hashimoto, T. et al. | 1988
- 349
-
α‐N‐acetylgalactosaminidase deficiency, a new lysosomal storage disordervan Diggelen, O. P. / Schindler, D. / Willemsen, R. / Boer, M. / Kleijer, W. J. / Huijmans, J. G. M. / Blom, W. / Galjaard, H. et al. | 1988
- 358
-
Peroxisomal integral membrane proteins in livers of patients with Zellweger syndrome, infantile Refsum's disease and X‐linked adrenoleukodystrophySmall, G. M. / Santos, M. J. / Imanaka, T. / Poulos, A. / Danks, D. M. / Moser, H. W. / Lazarow, P. B. et al. | 1988
- 372
-
Polarizing inclusions in some organs of children with congenital peroxisomal diseases (Zellweger's, Refsum's, chondrodysplasia punctata (rhizomelic form), X‐linked adrenoleukodystrophy)Kerckaert, I. / Dingemans, K. P. / Heymans, H. S. A. / Vamecq, J. / Roels, F. et al. | 1988
- 387
-
A protocol for the successful long‐term enzyme replacement therapy of scurvy in guinea pigsHadley, K. / Sato, P. et al. | 1988
- 397
-
The importance of recognizing secondary carnitine deficiency in organic acidaemias: Case report in glutaric acidaemia type IIMandel, H. / Africk, D. / Blitzer, M. / Shapira, E. et al. | 1988
- 403
-
Metabolism of3H‐dehydroepiandrosterone sulphate by subjects with steroid sulphatase deficiencyBergner, E. A. / Shapiro, L. J. et al. | 1988
- 416
-
Pattern reversal visual evoked potentials in phenylketonuriaGiovannini, M. / Valsasina, R. / Villani, R. / Ducati, A. / Riva, E. / Landi, A. / Longhi, R. et al. | 1988
- 423
-
Wolman's disease: clinical and biochemical findings of a new caseBona, G. / Bracco, G. / Gallina, M. R. / Iavarone, A. / Perona, A. / Zaffaroni, M. et al. | 1988
- 425
-
A new case of isolated sulphite oxidase deficiency with rapid fatal outcomeVianey‐Liaud, C. / Desjacques, P. / Gaulme, J. / Dorche, C. / Vanlieferinghen, P. / Dechelotte, P. / Divry, P. et al. | 1988
- 427
-
Changes in phenylalanine tolerance while monitoring the dietetic treatment of pregnant women suffering from hyperphenylalaninaemiaHyánek, J. / Viletová, H. / Soukup, J. / Kobilková, J. / Kubík, M. / Kunová, V. et al. | 1988
- 428
-
Highly increased levels of serum β‐hexosaminidase, arylsulphatase A and β‐galactosidase in a patient with sepsisTønnesen, T. / Andersen, P. / Güttler, F. et al. | 1988
- 430
-
Prenatal diagnosis of 3‐hydroxy‐3‐methylglutaric aciduria via enzyme activity measurements in chorionic villi, chorionic villous fibroblasts or amniocytes using a simple spectrophotometric methodWanders, R. J. A. / Schutgens, R. B. H. / Zoeters, B. H. M. et al. | 1988
- 431
-
Biochemical and nutritional status of children with hyperphenylalaninaemiaNord, A. M. / McCabe, L. / McCabe, E. R. B. et al. | 1988
- 432
-
A simple concept for the screening of amino‐ and organic aciduriasStöckler, S. / Klopf, M. / Pokits, P. / Erwa, W. / Kurz, R. / Paschke, E. et al. | 1988