当前位置： SCI文献检索 > JOURNAL OF INHERITED METABOLIC DISEASE期刊下所有文献 > Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease).

Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease).

Abstract：

:Our series of studies on Hunter disease in Japanese patients showed allelic heterogeneity of IDS gene mutations, genotype/phenotype correlation and racial differences in distribution of mutations. Twenty-five different small mutations have been characterized. Small mutations in the Japanese population are widely distributed through the IDS gene, although some mutations were unevenly concentrated on exon 5 (28%) and on exon 9 (24%). Mutations were seen at the same codon 468 in exon 9 in 5 patients. These findings are in good agreement with data on other ethnic groups. Two unique mutations linked to a severe phenotype were apparently associated with aberrant splicings; one was a point mutation within exon 3 (P86L), partially activating a cryptic splice acceptor site at 28 bp downstream from the mutation site within exon 3 and producing a 44-base truncated mRNA, and the other was a point mutation at the consensus sequence of the splice donor site of intron 2, causing exon 2 skipping.

journal_name

J Inherit Metab Dis

journal_title

Journal of inherited metabolic disease

authors

Isogai K,Sukegawa K,Tomatsu S,Fukao T,Song XQ,Yamada Y,Fukuda S,Orii T,Kondo N

doi

10.1023/a:1005363414792

subject

Has Abstract

pub_date

1998-02-01 00:00:00

pages

60-70

issue

1

eissn

0141-8955

issn

1573-2665

journal_volume

21

pub_type

杂志文章

相关文献

JOURNAL OF INHERITED METABOLIC DISEASE文献大全
  • Neurocognitive profiles in MSUD school-age patients.

    abstract：:Maple syrup urine disease (MSUD), an inborn error of amino acids catabolism is characterized by accumulation of branched chain amino acids (BCAAs) leucine, isoleucine, valine and their corresponding alpha-ketoacids. Impact on the cognitive development has been reported historically, with developmental delays of varyin...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,多中心研究

    doi：10.1007/s10545-017-0033-7

    authors： Bouchereau J,Leduc-Leballeur J,Pichard S,Imbard A,Benoist JF,Abi Warde MT,Arnoux JB,Barbier V,Brassier A,Broué P,Cano A,Chabrol B,Damon G,Gay C,Guillain I,Habarou F,Lamireau D,Ottolenghi C,Paermentier L,Sabourdy F,

    更新日期：2017-05-01 00:00:00

  • Effect of methylmalonate on in vitro lactate release and carbon dioxide production by brain of suckling rats.

    abstract：:Methylmalonate (MMA) accumulates in the tissues of patients with methylmalonic acidaemia, who present severe neurological signs soon after birth and later mental retardation. Attempting to understand the pathophysiology of the disorder, we investigated the effects of MMA on brain glucose uptake, lactate release and CO...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01800350

    authors： Wajner M,Dutra JC,Cardoso SE,Wannmacher CM,Motta ER

    更新日期：1992-01-01 00:00:00

  • Inborn errors and demyelination: MRI and the diagnosis of white matter disease.

    abstract：:The progress and extent of myelination can be assessed using magnetic resonance imaging (MRI). Myelination is delayed or diminished in several inherited metabolic abnormalities presenting in early life. Only minimal myelination of the CNS occurs in Pelizaeus-Merzbacher disease. Dysmyelination tends to produce fairly s...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/BF00711909

    authors： Kendall BE

    更新日期：1993-01-01 00:00:00

  • Successful allogeneic bone marrow transplant for Niemann-Pick disease type C2 is likely to be associated with a severe 'graft versus substrate' effect.

    abstract：:Niemann-Pick disease type C2 (NPC2) is caused by the inherited deficiency of a lysosomal cholesterol transport protein, NPC2 protein. Many cases of NPC2 present in early infancy with inflammatory lung disease, with subsequent severe neurological disease and death in early childhood. This disease is theoretically corre...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-010-9060-3

    authors： Bonney DK,O'Meara A,Shabani A,Imrie J,Bigger BW,Jones S,Wraith JE,Wynn RF

    更新日期：2010-12-01 00:00:00

  • Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG.

    abstract：:The congenital disorder of glycosylation, PMM2-CDG, is associated with progressive photoreceptor degeneration, which causes a pigmentary retinopathy. We identified a sibling pair, mildly affected with PMM2-CDG, who showed preserved photoreceptor function, but profound deficits of the 'on-pathway' in the retina. This l...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-013-9594-2

    authors： Thompson DA,Lyons RJ,Russell-Eggitt I,Liasis A,Jägle H,Grünewald S

    更新日期：2013-11-01 00:00:00

  • X-linked creatine transporter deficiency: clinical aspects and pathophysiology.

    abstract：:Creatine transporter deficiency was discovered in 2001 as an X-linked cause of intellectual disability characterized by cerebral creatine deficiency. This review describes the current knowledge regarding creatine metabolism, the creatine transporter and the clinical aspects of creatine transporter deficiency. The cond...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/s10545-014-9713-8

    authors： van de Kamp JM,Mancini GM,Salomons GS

    更新日期：2014-09-01 00:00:00

  • Carnitine deficiency with cardiomyopathy presenting as neonatal hydrops: successful response to carnitine therapy.

    abstract：:A small-for-date infant presented at birth with severe non-immune hydrops, cardiac failure, metabolic acidosis and hypoglycaemia. Ultrasonography disclosed a cardiomyopathy. Initial therapy consisting of artificial ventilation, inotropes and diuretics resulted in partial disappearance of oedema without significant imp...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01799334

    authors： Steenhout P,Elmer C,Clercx A,Blum D,Gnat D,van Erum S,Vertongen F,Vamos E

    更新日期：1990-01-01 00:00:00

  • 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients.

    abstract：:Five new patients are reported and the pathogenesis of the hypoglycaemia without ketogenesis is discussed. This report extends a recent review. ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01800058

    authors： Gibson KM,Breuer J,Kaiser K,Nyhan WL,McCoy EE,Ferreira P,Greene CL,Blitzer MG,Shapira E,Reverte F

    更新日期：1988-01-01 00:00:00

  • Galactose metabolism in transferase-deficient galactosaemic and normal long-term lymphoid cell lines.

    abstract：:The activity (mean +/- SD) of galactose-1-phosphate uridyl transferase in two long-term lymphoid cell lines from Caucasian patients with transferase deficiency galactosaemia, a heterozygote, and eight normal subjects was 0, 78 and 168 +/- 55 nmol UDPG consumed (mg protein)-1h-1, respectively. Also, no activity was fou...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01799977

    authors： Beratis NG,Wilbur L

    更新日期：1987-01-01 00:00:00

  • Quantitative retrospective natural history modeling for orphan drug development.

    abstract：:The natural history of most rare diseases is incompletely understood and usually relies on studies with low level of evidence. Consistent with the goals for future research of rare disease research set by the International Rare Diseases Research Consortium in 2017, the purpose of this paper is to review the recently d...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1002/jimd.12304

    authors： Garbade SF,Zielonka M,Komatsuzaki S,Kölker S,Hoffmann GF,Hinderhofer K,Mountford WK,Mengel E,Sláma T,Mechler K,Ries M

    更新日期：2021-01-01 00:00:00

  • Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study.

    abstract：OBJECTIVE:Acyl-CoA oxidase (ACOX1) deficiency is a rare disorder of peroxisomal very-long chain fatty acid oxidation. No reports detailing attempted treatment, longitudinal imaging, or neuropathology exist. We describe the natural history of clinical symptoms and brain imaging in two siblings with ACOX1 deficiency, inc...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-014-9698-3

    authors： Wang RY,Monuki ES,Powers J,Schwartz PH,Watkins PA,Shi Y,Moser A,Shrier DA,Waterham HR,Nugent DJ,Abdenur JE

    更新日期：2014-09-01 00:00:00

  • Continuous glucose monitoring in children with glycogen storage disease type I.

    abstract：:Glycogen storage disease type I (GSD I) is characterized by impaired production of glucose from glycogenolysis and gluconeogenesis resulting in severe fasting hypoglycaemia. The aim of the present study was to examine the efficacy of a continuous subcutaneous glucose monitoring system (CGMS MiniMed), to determine the ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 临床试验,杂志文章

    doi：10.1023/a:1013996325720

    authors： Hershkovitz E,Rachmel A,Ben-Zaken H,Phillip M

    更新日期：2001-12-01 00:00:00

  • Adenosine, dopamine and serotonin receptors imbalance in lymphocytes of Lesch-Nyhan patients.

    abstract：:Lesch-Nyhan disease (LND) is caused by complete deficiency of the hypoxanthine-guanine phosphoribosyltransferase enzyme. It is characterized by overproduction of uric acid, jointly with severe motor disability and self-injurious behaviour which physiopathology is unknown. These neurological manifestations suggest a dy...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-012-9470-5

    authors： García MG,Puig JG,Torres RJ

    更新日期：2012-11-01 00:00:00

  • Comparison of ornithine metabolism in hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome, lysinuric protein intolerance and gyrate atrophy fibroblasts.

    abstract：:We measured L-ornithine oxidation in cultured skin fibroblasts from seven patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria (HHH) syndrome (McKusick 23897), and compared it with oxidation by ornithine aminotransferase deficient gyrate atrophy (McKusick 25887) cells and lysinuric protein intolerance (M...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01805528

    authors： Botschner J,Smith DW,Simell O,Scriver CR

    更新日期：1989-01-01 00:00:00

  • Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.

    abstract：:Tandem mass spectrometry (MS/MS) is a highly sensitive and specific technique. Thanks to the development of triple quadrupole analyzers, it is becoming more widely used in laboratories working in the field of inborn errors of metabolism. We review here the state of the art of this technique applied to the diagnosis of...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/s10545-017-0126-3

    authors： Piraud M,Pettazzoni M,Lavoie P,Ruet S,Pagan C,Cheillan D,Latour P,Vianey-Saban C,Auray-Blais C,Froissart R

    更新日期：2018-05-01 00:00:00

  • Lesch-Nyhan syndrome: growth delay, testicular atrophy and a partial failure of the 11 beta-hydroxylation of steroids.

    abstract：:There is a failure of growth in hypoxanthine guanine phosphoribosyltransferase deficiency; slow weight gain is marked after the second year of age but is apparent in the birth weights of all eight of our patients for whom we have data. However, head growth and bone development are less affected than weight. A partial ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01800063

    authors： Watts RW,Harkness RA,Spellacy E,Taylor NF

    更新日期：1987-01-01 00:00:00

  • Collagen atomic scale molecular disorder in ochronotic cartilage from an alkaptonuria patient, observed by solid state NMR.

    abstract：UNLABELLED:In pilot studies of the usefulness of solid state nuclear magnetic resonance spectroscopy in characterizing chemical and molecular structural effects of alkaptonuria on connective tissue, we have obtained (13) C spectra from articular cartilage from an AKU patient. An apparently normal anatomical location yi...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-011-9373-x

    authors： Chow WY,Taylor AM,Reid DG,Gallagher JA,Duer MJ

    更新日期：2011-12-01 00:00:00

  • Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation.

    abstract：:Neuropsychological assessment is essential in providing documentation of the untreated natural history of storage diseases associated with dementia and quantifying the effectiveness of treatment on central nervous system function. Baseline characterization and outcome of bone marrow transplantation (BMT) for three leu...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/BF00710053

    authors： Shapiro EG,Lockman LA,Balthazor M,Krivit W

    更新日期：1995-01-01 00:00:00

  • Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient.

    abstract：UNLABELLED:This report describes the clinical, biochemical and molecular data of a 78-year-old patient with xanthine dehydrogenase deficiency presenting as rheumatoid arthritis. BACKGROUND:Xanthinuria type I is a rare disorder of purine metabolism caused by xanthine dehydrogenase (XDH) deficiency; fewer than 150 cases...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-009-9011-z

    authors： Jurecka A,Stiburkova B,Krijt J,Gradowska W,Tylki-Szymanska A

    更新日期：2010-12-01 00:00:00

  • Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis.

    abstract：:Mucopolysaccharidosis II (Hunter disease), a lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS), has variable clinical phenotypes. Nearly 300 different mutations have been identified in the IDS gene from patients with Hunter disease, but the correlation between the genotype and phenotype ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-006-0440-7

    authors： Sukegawa-Hayasaka K,Kato Z,Nakamura H,Tomatsu S,Fukao T,Kuwata K,Orii T,Kondo N

    更新日期：2006-12-01 00:00:00

  • Mutational analyses in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1.

    abstract：:We analysed the gene of the human alpha-subunit of liver phosphorylase kinase (PHKA2) in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1 by RT-PCR followed by PCR-single-strand conformation polymorphism and direct DNA sequencing. In this study, two novel mutations (Y116D and 2675A-->G...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/a:1005422819207

    authors： Hirono H,Shoji Y,Takahashi T,Sato W,Takeda E,Nishijo T,Kuroda Y,Nishigaki T,Inui K,Takada G

    更新日期：1998-12-01 00:00:00

  • Plasma carnitine ester profile in homozygous and heterozygous OCTN2 deficiency.

    abstract：:The carnitine ester spectrum was studied using ESI tandem mass spectrometry in a 2.5-year-old male Roma child with homozygous deletion of 844C of the SLC22A5 gene, presenting with hepatopathy and cardiomyopathy. Besides the dramatic decrease of plasma free carnitine (1.38 vs 32.7 mumol/L in controls) all plasma carnit...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-009-0926-1

    authors： Komlósi K,Magyari L,Talián GC,Nemes E,Káposzta R,Mogyorósy G,Méhes K,Melegh B

    更新日期：2009-12-01 00:00:00

  • Assessment of homocysteine status.

    abstract：:Plasma total homocysteine (tHcy) determination is used in the diagnosis of homocystinuria, in cobalamin and folate deficiency and in cardiovascular risk assessment. However, determination of tHcy includes many pitfalls which complicate the assessment of homocysteine status. In the present article, we review basic know...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1023/a:1005321225893

    authors： Refsum H,Fiskerstrand T,Guttormsen AB,Ueland PM

    更新日期：1997-06-01 00:00:00

  • Plasma phenylalanine and tyrosine levels revisited in heterozygotes for hyperphenylalaninaemia.

    abstract：:We examined the value of the fasting plasma phenylalanine/tyrosine ratio obtained in an ordinary clinical setting for assessing the probability of being a heterozygote for hyperphenylalaninaemia. This biochemical test was found to be of little value in those with a high (66%) prior risk of heterozygosity, because it c...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF00711323

    authors： Saraiva JM,Seakins JW,Smith I

    更新日期：1993-01-01 00:00:00

  • Quantitative analysis of disaccharides in the urine of beta-mannosidosis patients.

    abstract：:Until recently, there have not been any confirmed reports of beta-mannosidase deficiency in man. We have now analysed urine from two patients with confirmed beta-mannosidase deficiency and have found Man-beta(1-4)GlcNAc concentrations of 65 and 73 mg/mmol creatinine. These levels are at least 12 times higher than thos...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01799685

    authors： Tjoa S,Wenger DA,Fennessey PV

    更新日期：1990-01-01 00:00:00

  • The natural course of Gaucher disease in The Netherlands: implications for monitoring of disease manifestations.

    abstract：:This retrospective study in 20 untreated type I Gaucher disease patients shows that in Dutch patients clinical manifestations of Gaucher disease type I are progressive in the majority of patients, children as well as adults. This is in contrast with studies among Jewish patients. Our results emphasize the need for a r...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/a:1005655031239

    authors： Maaswinkel-Mooij P,Hollak C,van Eysden-Plaisier M,Prins M,Aerts H,Pöll R

    更新日期：2000-02-01 00:00:00

  • Glutaric aciduria type I and kynurenine pathway metabolites: a modified hypothesis.

    abstract：:Glutaric aciduria type I is an inborn error of organic acid metabolism that demonstrates a particular temporal vulnerability (acute encephalopathic episodes in infancy) and a spatial vulnerability (acute striatal necrosis, focused on the putamen). Excitotoxic mechanisms involving 3-hydroxyglutaric acid as the major ne...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1023/B:BOLI.0000045767.42193.97

    authors： Varadkar S,Surtees R

    更新日期：2004-01-01 00:00:00

  • Plasma and erythrocyte fatty acid concentrations in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

    abstract：:Plasma and erythrocyte fatty acids have been measured in 9 patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency being treated with a low-fat diet. No significant abnormality was detected and in particular docosahexaenoic acid was not deficient. ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/a:1025175606891

    authors： Lund AM,Dixon MA,Vreken P,Leonard JV,Morris AA

    更新日期：2003-01-01 00:00:00

  • Quality of diagnostic mutation analyses for phenylketonuria.

    abstract：:DNA sequence analyses have become a major component in the diagnostic work-up of patients; however, limited consideration appears to be given to the possibility that reported results may in fact be wrong. Over the last four years we have carried out an External Quality Assessment scheme for mutation analysis in phenyl...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-008-1052-1

    authors： Zschocke J,Aulehla-Scholz C,Patton S

    更新日期：2008-12-01 00:00:00

  • Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.

    abstract：BACKGROUND:Cerebrotendinous xanthomatosis (CTX) is an autosomal recessively inherited inborn error of metabolism (IEM) due to mutations in the CYP27A1 gene. The clinical picture ranges from being nearly asymptomatic in early childhood, up to severe disability at adult age. Infantile-onset diarrhea and juvenile-onset ca...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-017-0086-7

    authors： Stelten BML,Bonnot O,Huidekoper HH,van Spronsen FJ,van Hasselt PM,Kluijtmans LAJ,Wevers RA,Verrips A

    更新日期：2018-07-01 00:00:00