当前位置： SCI文献检索 > MOLECULAR GENETICS AND METABOLISM期刊下所有文献 > Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature.

Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature.

Abstract：

:Anderson-Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency of the hydrolytic enzyme alpha galactosidase A, with consequent accumulation of globotrioasoyl ceramide in cells and tissues of the body, resulting in a multi-system pathology including end organ failure. In the classical phenotype, cardiac failure, renal failure and stroke result in a reduced median life expectancy. The current causal treatment for Fabry disease is the enzyme replacement therapy (ERT): two different products, Replagal (agalsidase alfa) and Fabrazyme (agalsidase beta), have been commercially available in Europe for almost 10 years and they are both indicated for long-term treatment. In fact, clinical trials, observational studies and registry data have provided many evidences for safety and efficacy of ERT in improving symptoms of pain, gastrointestinal disturbances, hypohidrosis, left ventricular mass index, glomerular filtration rate and quality of life. Few data are available on comparison of the two treatments and on the clinical course of the disease. This article reviews the published evidence for clinical efficacy of the two available enzyme preparations.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Pisani A,Visciano B,Roux GD,Sabbatini M,Porto C,Parenti G,Imbriaco M

doi

10.1016/j.ymgme.2012.08.003

subject

Has Abstract

pub_date

2012-11-01 00:00:00

pages

267-75

issue

3

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(12)00303-4

journal_volume

107

pub_type

杂志文章,评审

相关文献

MOLECULAR GENETICS AND METABOLISM文献大全
  • Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency.

    abstract：:We describe the treatment, the clinical, and biochemical findings and the outcome of 26 patients with 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency and 10 patients with dihydropteridine reductase (DHPR) deficiency. These are the two most common forms of the autosomal-recessively inherited tetrahydrobiopterin ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2007.10.004

    authors： Jäggi L,Zurflüh MR,Schuler A,Ponzone A,Porta F,Fiori L,Giovannini M,Santer R,Hoffmann GF,Ibel H,Wendel U,Ballhausen D,Baumgartner MR,Blau N

    更新日期：2008-03-01 00:00:00

  • Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins.

    abstract：:D-2-hydroxyglutaric aciduria (D-2-HGA) is a very rare autosomal recessive metabolic disorder that has recently been associated with mutations in the D-2-hydroxyglutarate dehydrogenase gene. The biochemical phenotype of D-2-HGA is defined by the accumulation of abnormal amounts of D-2-hydroxyglutarate in cerebrospinal ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2005.06.005

    authors： Misra VK,Struys EA,O'brien W,Salomons GS,Glover T,Jakobs C,Innis JW

    更新日期：2005-09-01 00:00:00

  • Evolutionary divergence of thyrotropin receptor structure.

    abstract：:The availability of 18 thyrotropin receptor (TSHR) sequences, including two recent entries for primates and seven from fish, have allowed us to investigate diversification of residues or domains during evolution. We used a likelihood ratio test for evolutionary rate shifts [Proc. Natl. Acad. Sci. 98 (2001) 14512] usin...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2004.01.010

    authors： Knudsen B,Farid NR

    更新日期：2004-04-01 00:00:00

  • The functions of RPS19 and their relationship to Diamond-Blackfan anemia: a review.

    abstract：:The relatively new study of ribosomal proteins has allowed for greater understanding of protein synthesis; however the connection between ribosomal proteins' roles and that of disease pathophysiology has not yet been established. RPS19 is a ribosomal protein linked to Diamond-Blackfan anemia whose functions have begun...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,评审

    doi：10.1016/j.ymgme.2006.11.004

    authors： Morimoto K,Lin S,Sakamoto K

    更新日期：2007-04-01 00:00:00

  • Pyrimethamine increases β-hexosaminidase A activity in patients with Late Onset Tay Sachs.

    abstract：OBJECTIVE:To assess whether or not pyrimethamine (PMT) can be used to enhance β-hexosaminidase A activity (HexA) in subjects with Late Onset Tay Sachs (LOTS), we studied the effect of incremental doses of PMT in vivo in 9 LOTS patients carrying the αG269S/c.1278insTACT mutations. METHODS:PMT treatment was initiated at...

    journal_title：Molecular genetics and metabolism

    pub_type： 临床试验,杂志文章

    doi：10.1016/j.ymgme.2010.11.163

    authors： Osher E,Fattal-Valevski A,Sagie L,Urshanski N,Amir-Levi Y,Katzburg S,Peleg L,Lerman-Sagie T,Zimran A,Elstein D,Navon R,Stern N,Valevski A

    更新日期：2011-03-01 00:00:00

  • Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndrome.

    abstract：BACKGROUND:Little is known about the consequences of the special energy enriched diet used to treat patients with phenylketonuria (PKU) in terms of obesity and metabolic syndrome (MetSyn) development. OBJECTIVE:To investigate the prevalence of overweight and obesity, and its consequences in terms of body composition a...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2012.10.006

    authors： Rocha JC,van Spronsen FJ,Almeida MF,Soares G,Quelhas D,Ramos E,Guimarães JT,Borges N

    更新日期：2012-12-01 00:00:00

  • CYP gene polymorphisms and early menarche.

    abstract：:Early age at menarche is a risk factor for breast cancer. A previous study reported a significant positive association between the CYP3A4*1B variant allele and early puberty. We investigated whether polymorphisms of the CYP3A4, CYP17, CYP1B1, and CYP1A2 genes predict the age at onset of menarche. Five hundred eighty-t...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.2001.3260

    authors： Lai J,Vesprini D,Chu W,Jernström H,Narod SA

    更新日期：2001-12-01 00:00:00

  • Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletion.

    abstract：:Thymidine kinase 2 (TK2), encoded by the TK2 gene on chromosome 16q22, is one of the deoxyribonucleoside kinases responsible for the maintenance of mitochondrial deoxyribonucleotide pools. Defects in TK2 mainly cause a myopathic form of the mitochondrial DNA depletion syndrome (MDDS). Currently, only point mutations a...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2009.09.003

    authors： Zhang S,Li FY,Bass HN,Pursley A,Schmitt ES,Brown BL,Brundage EK,Mardach R,Wong LJ

    更新日期：2010-01-01 00:00:00

  • Isolation and characterization of a novel transcript embedded within HIRA, a gene deleted in DiGeorge syndrome.

    abstract：:We have isolated a few cDNAs from different human tissues, transcribed from the first intron of HIRA, a gene deleted in the DiGeorge syndrome. These cDNAs are produced by an intronic gene (22k48) which is transcribed by the HIRA opposite strand and is itself arranged in exons and subjected to alternative splicing. The...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.1999.2868

    authors： Pizzuti A,Novelli G,Ratti A,Amati F,Bordoni R,Mandich P,Bellone E,Conti E,Bengala M,Mari A,Silani V,Dallapiccola B

    更新日期：1999-07-01 00:00:00

  • Swallowing dysfunction in patients with nephropathic cystinosis.

    abstract：INTRODUCTION:Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Patients with nephropathic cystinosis suffer not only from renal disease but have also other systemic complications like myopathy and swallowing dysfunction. Dysphagia for solid food is me...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2019.01.011

    authors： van Rijssel AE,Knuijt S,Veys K,Levtchenko EN,Janssen MCH

    更新日期：2019-04-01 00:00:00

  • Congenital erythropoietic porphyria: prolonged high-level expression and correction of the heme biosynthetic defect by retroviral-mediated gene transfer into porphyric and erythroid cells.

    abstract：:Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder resulting from the deficient activity of the heme biosynthetic enzyme uroporphyrinogen III synthase (UROS). Severely affected patients are transfusion dependent and have mutilating cutaneous manifestations. Successful bone marrow transplantat...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.1998.2739

    authors： Kauppinen R,Glass IA,Aizencang G,Astrin KH,Atweh GF,Desnick RJ

    更新日期：1998-09-01 00:00:00

  • Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih.

    abstract：:Congenital disorders of glycosylation (CDG) are an expanding group of inherited disorders caused by defects in the N- or O-Glycosylation of proteins and lipids. Several CDG subtypes have been described so far, including CDG type Ih which is caused by a deficiency of the dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2009.06.010

    authors： Stölting T,Omran H,Erlekotte A,Denecke J,Reunert J,Marquardt T

    更新日期：2009-11-01 00:00:00

  • Hepatocellular adenoma and metabolic balance in patients with type Ia glycogen storage disease.

    abstract：:Glycogen storage disease type I (GSD I) is a metabolic disorder resulting from defects in the glucose-6-phosphatase system. Approximately 75% of adolescent and adult patients develop hepatocellular adenomas, which can lead to considerable morbidity and mortality. The pathogenesis of adenomas is unclear and the risk of...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2007.10.134

    authors： Di Rocco M,Calevo MG,Taro' M,Melis D,Allegri AE,Parenti G

    更新日期：2008-04-01 00:00:00

  • Molecular cloning of junctin from human and developing rabbit heart.

    abstract：:Canine junctin is a 26-kDa transmembrane protein found in the sarcoplasmic reticulum (SR) membrane in cardiac and skeletal muscle. Junctin has recently been shown to bind directly to calsequestrin, the ryanodine receptor, and triadin. Junctin is thought to play a role in facilitating (and perhaps regulating) Ca(2+) re...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.2000.2966

    authors： Wetzel GT,Ding S,Chen F

    更新日期：2000-03-01 00:00:00

  • Improved standards for prenatal diagnosis of citrullinemia.

    abstract：:Citrullinemia type I is a urea cycle disorder caused by autosomal recessive mutations in argininosuccinate synthetase 1 (ASS1). In the classical form of this disease, symptoms manifest during the neonatal period as progressive lethargy, poor feeding, and central nervous system depression secondary to hyperammonemia. I...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2014.05.004

    authors： Miller MJ,Soler-Alfonso CR,Grund JE,Fang P,Sun Q,Elsea SH,Sutton VR

    更新日期：2014-07-01 00:00:00

  • Evidence for a short-chain carnitine-acylcarnitine translocase in mitochondria specifically related to the metabolism of branched-chain amino acids.

    abstract：:Carnitine-acylcarnitine translocase (CATR) deficiency is a severe defect in fatty acid oxidation which presents early in life most frequently with hypoglycemia, hyperammonemia, and severe cardiac abnormalities. CATR exchanges acylcarnitines of various chain lengths for free carnitine across the mitochondrial membrane....

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.1999.2950

    authors： Roe DS,Roe CR,Brivet M,Sweetman L

    更新日期：2000-01-01 00:00:00

  • Human liver-specific very-long-chain acyl-coenzyme A synthetase: cDNA cloning and characterization of a second enzymatically active protein.

    abstract：:Activation of fatty acids, catalyzed by acyl-coenzyme A (acyl-CoA) synthetases, is required for their subsequent metabolism. Peroxisomes and microsomes contain very-long-chain acyl-CoA synthetases (VLCSs) capable of activating fatty acids with a chain length of 22 or more carbons. Decreased peroxisomal VLCS activity i...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.1999.2883

    authors： Steinberg SJ,Wang SJ,McGuinness MC,Watkins PA

    更新日期：1999-09-01 00:00:00

  • Detection and assignment of CYP21 mutations using peptide mass signature genotyping.

    abstract：:Congenital adrenal hyperplasia (CAH) is a common inborn error of steroidogenesis. The clinical spectrum of CAH ranges from the severe classical form, which can be fatal in the newborn, to simple virilizing forms or a milder non-classical form which is often not diagnosed until puberty. Recessive mutations in the autos...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2004.02.006

    authors： Zeng X,Witchel SF,Dobrowolski SF,Moulder PV,Jarvik JW,Telmer CA

    更新日期：2004-05-01 00:00:00

  • Prevalence and predictors of liver fibrosis evaluated by vibration controlled transient elastography in type 1 Gaucher disease.

    abstract：BACKGROUND & AIMS:Long-term liver-related complications of Gaucher disease (GD) include cirrhosis, portal hypertension and hepatocellular carcinoma. Although liver fibrosis is the main determinant of adverse liver-related clinical outcomes, it has rarely been evaluated in previously published cohorts of GD patients. We...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2018.08.004

    authors： Nascimbeni F,Cassinerio E,Dalla Salda A,Motta I,Bursi S,Donatiello S,Spina V,Cappellini MD,Carubbi F

    更新日期：2018-09-01 00:00:00

  • High prevalence of overweight and obesity in females with phenylketonuria.

    abstract：:The primary treatment for phenylketonuria (PKU) is a low phenylalanine diet together with an amino acid-based, phenylalanine-free formula. Thus, PKU patients tend to consume a diet enriched in carbohydrates which could predispose to obesity. Studies in the 1980s and 1990s demonstrated that school-age phenylketonuria (...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2012.07.006

    authors： Burrage LC,McConnell J,Haesler R,O'Riordan MA,Sutton VR,Kerr DS,McCandless SE

    更新日期：2012-09-01 00:00:00

  • The designer aminoglycoside NB84 significantly reduces glycosaminoglycan accumulation associated with MPS I-H in the Idua-W392X mouse.

    abstract：:Suppression therapy utilizes compounds that suppress translation termination at in-frame premature termination codons (PTCs) to restore full-length, functional protein. This approach may provide a treatment for diseases caused by nonsense mutations such as mucopolysaccharidosis type I-Hurler (MPS I-H). MPS I-H is a ly...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2011.10.005

    authors： Wang D,Belakhov V,Kandasamy J,Baasov T,Li SC,Li YT,Bedwell DM,Keeling KM

    更新日期：2012-01-01 00:00:00

  • Slc19a2: cloning and characterization of the murine thiamin transporter cDNA and genomic sequence, the orthologue of the human TRMA gene.

    abstract：:Recently, our group and others cloned the TRMA disease gene, SLC19A2, which encodes a thiamin transporter. Here, we report the cloning and characterization of the full-length cDNA and genomic sequences of mouse Slc19a2. The Slc19a2 cDNA contained a 1494-bp open-reading frame, and had 5'- and 3'-untranslated regions of...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.2001.3184

    authors： Oishi K,Hirai T,Gelb BD,Diaz GA

    更新日期：2001-06-01 00:00:00

  • Long circulating enzyme replacement therapy rescues bone pathology in mucopolysaccharidosis VII murine model.

    abstract：:Mucopolysaccharidosis (MPS) type VII is a lysosomal storage disease caused by deficiency of the lysosomal enzyme β-glucuronidase (GUS), leading to accumulation of glycosaminoglycans (GAGs). Enzyme replacement therapy (ERT) effectively clears GAG storage in the viscera. Recent studies showed that a chemically modified ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2012.07.002

    authors： Rowan DJ,Tomatsu S,Grubb JH,Haupt B,Montaño AM,Oikawa H,Sosa AC,Chen A,Sly WS

    更新日期：2012-09-01 00:00:00

  • Gaucher disease and parkinsonism, a molecular link theory.

    abstract：:Mutant GBA was found recently to be the most prevalent risk factor for familial parkinsonism. The two diseases do not share common symptoms and there is no direct pathway to explain the mechanism by which GBA mutations can confer the risk. Increased burden on the degradative pathway caused by defective glucocerebrosid...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2010.08.004

    authors： Goldin E

    更新日期：2010-12-01 00:00:00

  • Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2).

    abstract：:The Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurological disease characterized by ponto-bulbar palsy, bilateral sensorineural deafness, and respiratory insufficiency. Recent genetic studies have identified mutations in the C20orf54 gene, which encodes the human riboflavin (RF) transporter -2 (hRFT-2) and s...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2011.12.021

    authors： Nabokina SM,Subramanian VS,Said HM

    更新日期：2012-04-01 00:00:00

  • mtDNA depletion myopathy: elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiency.

    abstract：:Decreased mitochondrial thymidine kinase (TK2) activity is associated with mitochondrial DNA (mtDNA) depletion and respiratory chain dysfunction and is manifested by isolated, fatal skeletal myopathy. Other tissues such as liver, brain, heart, and skin remain unaffected throughout the patients' life. In order to eluci...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/s1096-7192(03)00063-5

    authors： Saada A,Shaag A,Elpeleg O

    更新日期：2003-05-01 00:00:00

  • Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type.

    abstract：:Abnormal neurodevelopment has been widely reported in combined methylmalonic aciduria (MMA) and homocystinuria, cblC type (cblC disease), but neurodevelopmental phenotypes in cblC have not previously been systematically studied. We sought to further characterize developmental neurology in children with molecularly-con...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2013.07.018

    authors： Weisfeld-Adams JD,Bender HA,Miley-Åkerstedt A,Frempong T,Schrager NL,Patel K,Naidich TP,Stein V,Spat J,Towns S,Wasserstein MP,Peter I,Frank Y,Diaz GA

    更新日期：2013-11-01 00:00:00

  • The effects of hyperglycemia on adrenal cortex function and steroidogenesis in the zebrafish.

    abstract：:Since the 1950s, scientists have attempted to characterize the relationship between diabetes mellitus (DM) and the hypothalamic-pituitary-adrenal (HPA) axis. Similar complications are seen in patients with diabetes and Cushing's syndrome, leading some to suggest that an underlying abnormality in the HPA axis may be re...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2010.09.012

    authors： Powers JW,Mazilu JK,Lin S,McCabe ER

    更新日期：2010-12-01 00:00:00

  • A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD.

    abstract：:We studied 11 Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD) and found a common mutation, c.449-452delCTGA, which accounted for 45% of the mutations. Seven of 10 independent patients carried at least one copy of this mutation. Phenotypes of homozygous patients with the c.449-452delCTGA m...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2008.10.012

    authors： Purevsuren J,Kobayashi H,Hasegawa Y,Mushimoto Y,Li H,Fukuda S,Shigematsu Y,Fukao T,Yamaguchi S

    更新日期：2009-02-01 00:00:00

  • Therapies for mitochondrial diseases and current clinical trials.

    abstract：:Mitochondrial diseases are a clinically and genetically heterogeneous group of disorders that result from dysfunction of the mitochondrial oxidative phosphorylation due to molecular defects in genes encoding mitochondrial proteins. Despite the advances in molecular and biochemical methodologies leading to better under...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,评审

    doi：10.1016/j.ymgme.2017.09.009

    authors： El-Hattab AW,Zarante AM,Almannai M,Scaglia F

    更新日期：2017-11-01 00:00:00