S-adenosylmethionine treatment in methionine adenosyltransferase deficiency, a case report.

abstract：:X-linked adrenoleukodystrophy (X-ALD) is a progressive neurodegenerative disorder characterized by the accumulation of saturated and mono-unsaturated very long-chain fatty acids (VLCFA) and reduced peroxisomal VLCFA beta-oxidation activity. In this study, we investigated the role of VLCFA biosynthesis in X-ALD fibrobl...

journal_title：Molecular genetics and metabolism

authors： Kemp S,Valianpour F,Denis S,Ofman R,Sanders RJ,Mooyer P,Barth PG,Wanders RJ

更新日期：2005-02-01 00:00:00

abstract：:The oral contraceptive pill is associated with a modest increase in the risk of early-onset breast cancer in the general population, but it is possible that the risk is higher in certain subgroups of women. The relative risk of breast cancer associated with oral contraceptive use has been reported to be higher for Afr...

journal_title：Molecular genetics and metabolism

authors： Jernström H,Chu W,Vesprini D,Tao Y,Majeed N,Deal C,Pollak M,Narod SA

更新日期：2001-02-01 00:00:00

abstract：BACKGROUND:Barth syndrome (BTHS) is an X-linked recessive disorder characterized by cardiomyopathy, skeletal myopathy and cyclic neutropenia in male patients. It is caused by mutations in the TAZ gene coding for the tafazzin, a protein involved in the remodeling of cardiolipin. Loss of cardiolipin in the inner mitochon...

journal_title：Molecular genetics and metabolism

authors： Cosson L,Toutain A,Simard G,Kulik W,Matyas G,Guichet A,Blasco H,Maakaroun-Vermesse Z,Vaillant MC,Le Caignec C,Chantepie A,Labarthe F

更新日期：2012-05-01 00:00:00

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

authors： Knudsen B,Farid NR

更新日期：2004-04-01 00:00:00

abstract：:Resistance to apoptosis has been described in neutrophils from patients with PNH and related hematologic disorders (aplastic anemia, myelodysplastic syndrome), but its molecular basis is not understood. Using gene expression analysis, PNH granulocytes had relative overexpression of four anti-apoptosis genes (human A1,...

journal_title：Molecular genetics and metabolism

authors： Heeney MM,Ormsbee SM,Moody MA,Howard TA,DeCastro CM,Ware RE

更新日期：2003-04-01 00:00:00

abstract：:A tetraglucose oligomer, Glcalpha1-6Glcalpha1-4Glcalpha1-4Glc, designated Glc4, has been shown to be a putative biomarker for the diagnosis of Pompe disease. The purpose of this study was to assess whether Glc4 could be used to monitor the therapeutic response to recombinant human acid alpha glucosidase (rhGAA) enzyme...

journal_title：Molecular genetics and metabolism

authors： An Y,Young SP,Kishnani PS,Millington DS,Amalfitano A,Corz D,Chen YT

更新日期：2005-08-01 00:00:00

abstract：:We report a transient drop in plasma Hcy and Cys following a single oral dose of PteGlu. The thiol change was concomitant with both the peak plasma 5CH3H4PteGlu1 level (by HPLC) and the maximum plasma Lactobacillus casei activity which reflects absorption of unmodified PteGlu. The significant reciprocal association of...

journal_title：Molecular genetics and metabolism

authors： Lucock MD,Daskalakis I,Schorah CJ,Lumb CH,Oliver M,Devitt H,Wild J,Dowell AC,Levene MI

更新日期：1999-05-01 00:00:00

abstract：:Congenital disorders of glycosylation (CDG) are caused by enzymatic defects of the formation or processing of lipid-linked oligosaccharides and glycoproteins. Since the majority of proteins is glycosylated, a defect in a singular CDG enzyme leads to a multisytemic disease with secondary malfunction of thousands of pro...

journal_title：Molecular genetics and metabolism

authors： Würde AE,Reunert J,Rust S,Hertzberg C,Haverkämper S,Nürnberg G,Nürnberg P,Lehle L,Rossi R,Marquardt T

更新日期：2012-04-01 00:00:00

abstract：:Acute intermittent porphyria (AIP) is an autosomal dominant disorder of heme biosynthesis caused by molecular defects in the hydroxymethylbilane synthase (HMBS) gene. In this study, we report two novel missense sequence variations in the HMBS gene, T59I (C176T) and V215M (G643A), in two patients with clinical symptoms...

journal_title：Molecular genetics and metabolism

authors： Schneider-Yin X,Ulbrichova D,Mamet R,Martasek P,Marohnic CC,Goren A,Minder EI,Schoenfeld N

更新日期：2008-07-01 00:00:00

abstract：:Inherited defects in glutaryl-CoA dehydrogenase cause the neurometabolic disease, glutaric acidemia type I. Five of over 80 mutations that have been identified are located in a carboxyl-terminal domain. The five mutations were generated by site directed mutagenesis and expressed in Escherichia coli. The mutant dehydro...

journal_title：Molecular genetics and metabolism

authors： Westover JB,Goodman SI,Frerman FE

更新日期：2003-08-01 00:00:00

abstract：:Tetrahydrobiopterin (BH(4)) is widely used as a therapeutic agent in patients with BH(4) deficiencies and mild forms of phenylketonuria (PKU) and there is an increasing need for the measurement of its plasma concentrations in patients with cardiovascular disorders. We measured BH(4) and total biopterin in dithioerythr...

journal_title：Molecular genetics and metabolism

authors： Fiege B,Ballhausen D,Kierat L,Leimbacher W,Goriounov D,Schircks B,Thöny B,Blau N

更新日期：2004-01-01 00:00:00

abstract：:KCNJ11 polymorphisms have been linked to the risk of developing type 2 diabetes. Our aim was to define the contribution of KCNJ11 to new-onset diabetes after transplantation (NODAT) among patients treated with Tacrolimus (Tac). A total of 115 NODAT and 205 non-NODAT were genotyped for rs5219 (p.E23K). AA+AG genotypes ...

journal_title：Molecular genetics and metabolism

authors： Tavira B,Coto E,Torres A,Díaz-Corte C,Díaz-Molina B,Ortega F,Arias M,Díaz JM,Selgas R,López-Larrea C,Ruiz-Ortega M,Ortiz A,González E,Campistol JM,Alvarez V,Pharmacogenetics of tacrolimus REDINREN study group.

更新日期：2012-03-01 00:00:00

abstract：BACKGROUND:Phenylketonuria (PKU) is an autosomal recessive disorder caused by deficiency of hepatic phenylalanine hydroxylase (PAH) leading to increased levels of phenylalanine in the plasma. Phenylalanine levels and phenylalanine hydroxylase (PAH) activity monitoring are currently limited to conventional blood dot tes...

journal_title：Molecular genetics and metabolism

authors： Turki A,Murthy G,Ueda K,Cheng B,Giezen A,Stockler-Ipsiroglu S,Elango R

更新日期：2015-06-01 00:00:00

abstract：BACKGROUND:Oxidative stress is involved in the pathophysiology of renal and cardiovascular complications of diabetes. Superoxide dismutase (SOD) enzymes play a major role in detoxification of reactive oxygen species and protection against oxidative stress. Associations of SOD1 gene variants with diabetic nephropathy we...

journal_title：Molecular genetics and metabolism

authors： Neves AL,Mohammedi K,Emery N,Roussel R,Fumeron F,Marre M,Velho G

更新日期：2012-07-01 00:00:00

abstract：:Oxidative metabolism of glucose is regulated by pyruvate dehydrogenase (PDH) that can be inhibited by isoforms of PDH kinase (PDK). Recently, increased PDK activity has been implicated in the pathogenesis of insulin resistance and non-insulin-dependent diabetes mellitus (NIDDM) in obese subjects. Using quantitative RT...

journal_title：Molecular genetics and metabolism

authors： Majer M,Popov KM,Harris RA,Bogardus C,Prochazka M

更新日期：1998-10-01 00:00:00

abstract：:Cardiac malformations (CVMs) are a leading cause of infant morbidity and mortality. CVMs are particularly prevalent when the developing fetus is exposed to high levels of phenylalanine in-utero in mothers with Phenylketonuria. Yet, elucidating the underlying molecular mechanism leading to CVMs has proven difficult. In...

journal_title：Molecular genetics and metabolism

authors： Watson JN,Seagraves NJ

更新日期：2019-01-01 00:00:00

abstract：:The tissue specificity of mitochondrial diseases is poorly understood. Recently, tissue-specific quantitative differences of the components of the mitochondrial translation system have been found to correlate with disease presentation in fatal hepatopathy caused by mutations in mitochondrial translation factor EFG1. M...

journal_title：Molecular genetics and metabolism

authors： Bykhovskaya Y,Mengesha E,Fischel-Ghodsian N

更新日期：2007-06-01 00:00:00

abstract：:Phenylalanine hydroxylase (PAH) deficiency, colloquially known as phenylketonuria (PKU), is among the most common inborn errors of metabolism and in the past decade has become a target for the development of novel therapeutics such as gene therapy. PAH deficient mouse models have been key to new treatment development,...

journal_title：Molecular genetics and metabolism

authors： Richards DY,Winn SR,Dudley S,Fedorov L,Rimann N,Thöny B,Harding CO

更新日期：2020-11-01 00:00:00

abstract：:This 24-week, Phase I/II, double-blind, randomized, placebo-controlled study investigated the safety and efficacy of extended-release albuterol in late-onset Pompe disease stably treated with enzyme replacement therapy at the standard dose for 4.9 (1.0-9.4) years and with no contraindications to intake of albuterol. T...

journal_title：Molecular genetics and metabolism

authors： Koeberl DD,Case LE,Desai A,Smith EC,Walters C,Han SO,Thurberg BL,Young SP,Bali D,Kishnani PS

更新日期：2020-02-01 00:00:00

abstract：BACKGROUND:Treatment of Fabry disease (FD) with recombinant alpha-galactosidase A (r-αGAL A) is complicated by the formation of anti-drug antibodies in the majority of male patients with the classical disease phenotype. Detailed information regarding antibody subtypes, onset and persistence of antibody development and ...

journal_title：Molecular genetics and metabolism

authors： van der Veen SJ,van Kuilenburg ABP,Hollak CEM,Kaijen PHP,Voorberg J,Langeveld M

更新日期：2019-02-01 00:00:00

abstract：:Dilated cardiomyopathy (DCM) is a major cause of morbidity and mortality. Two genes have been identified for the X-linked forms (dystrophin and tafazzin), while mutations in multiple genes cause autosomal dominant DCM. Muscle LIM protein (MLP) is a member of the cysteine-rich protein (CRP) family and has been implicat...

journal_title：Molecular genetics and metabolism

authors： Mohapatra B,Jimenez S,Lin JH,Bowles KR,Coveler KJ,Marx JG,Chrisco MA,Murphy RT,Lurie PR,Schwartz RJ,Elliott PM,Vatta M,McKenna W,Towbin JA,Bowles NE

更新日期：2003-09-01 00:00:00

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

authors： Nabokina SM,Subramanian VS,Said HM

更新日期：2012-04-01 00:00:00

abstract：:We report here the case of a young male who started to show verbal fluency disturbance, clumsiness and gait anomalies at the age of 3.5years and presented bilateral striatal necrosis. Clinically, the diagnosis was compatible with Leigh syndrome but the underlying molecular defect remained elusive even after exome anal...

journal_title：Molecular genetics and metabolism

authors： Bianciardi L,Imperatore V,Fernandez-Vizarra E,Lopomo A,Falabella M,Furini S,Galluzzi P,Grosso S,Zeviani M,Renieri A,Mari F,Frullanti E

更新日期：2016-11-01 00:00:00

abstract：:Carnitine-acylcarnitine translocase (CACT) deficiency is a rare disorder of fatty acid oxidation associated with high mortality. Two female newborns of different ethnic origin (the first Anglo-Celtic and the second Palestinian Arab) both died after sudden collapse on day 2 of life. Both had elevated bloodspot long-cha...

journal_title：Molecular genetics and metabolism

authors： Korman SH,Pitt JJ,Boneh A,Dweikat I,Zater M,Meiner V,Gutman A,Brivet M

更新日期：2006-12-01 00:00:00

abstract：:Increased glucose metabolism through the hexosamine pathway may result in insulin resistance, impaired insulin secretion, and diabetic nephropathy. We hypothesized that variants of GFPT1 encoding glutamine-fructose-6-phosphate amidotransferase, the rate limiting enzyme in this pathway, could increase GFPT1 gene expres...

journal_title：Molecular genetics and metabolism

authors： Elbein SC,Zheng H,Jia Y,Chu W,Cooper JJ,Hale T,Zhang Z

更新日期：2004-08-01 00:00:00

abstract：:Congenital generalized lipodystrophy (CGL), characterized by generalized absence of adipose tissue, has heterogeneous causes. Recently, a novel type of CGL complicated by muscular dystrophy was categorized as CGL4 caused by PTRF-CAVIN deficiency. However, it is unknown whether CGL4 exhibits clinical abnormalities duri...

journal_title：Molecular genetics and metabolism

authors： Dwianingsih EK,Takeshima Y,Itoh K,Yamauchi Y,Awano H,Malueka RG,Nishida A,Ota M,Yagi M,Matsuo M

更新日期：2010-10-01 00:00:00

abstract：:3-MCC deficiency is among the most common inborn errors of metabolism identified on expanded newborn screening (1:36,000 births). However, evidence-based guidelines for diagnosis and management of this disorder are lacking. Using the traditional Delphi method, a panel of 15 experts in inborn errors of metabolism was c...

journal_title：Molecular genetics and metabolism

authors： Arnold GL,Koeberl DD,Matern D,Barshop B,Braverman N,Burton B,Cederbaum S,Fiegenbaum A,Garganta C,Gibson J,Goodman SI,Harding C,Kahler S,Kronn D,Longo N

更新日期：2008-04-01 00:00:00

abstract：:Brody disease is an inherited myopathy associated with a defective function of sarcoplasmic/endoplasmic reticulum Ca(2+)-ATPase 1 (SERCA1) protein. Mutations in the ATP2A1 gene have been reported only in some patients. Therefore it has been proposed to distinguish patients with ATP2A1 mutations, Brody disease (BD), fr...

journal_title：Molecular genetics and metabolism

authors： Guglielmi V,Vattemi G,Gualandi F,Voermans NC,Marini M,Scotton C,Pegoraro E,Oosterhof A,Kósa M,Zádor E,Valente EM,De Grandis D,Neri M,Codemo V,Novelli A,van Kuppevelt TH,Dallapiccola B,van Engelen BG,Ferlini A,Tomell

更新日期：2013-09-01 00:00:00

abstract：:Fabry disease is an under-recognized X-linked lysosomal disorder, due to alpha-galactosidase A deficiency. Most of the mutations in the GLA gene are detectable using genomic sequencing analysis. However, deletions of one or more exons or deletion encompassing the entire gene are undetectable, especially in heterozygou...

journal_title：Molecular genetics and metabolism

authors： Schirinzi A,Centra M,Prattichizzo C,Gigante M,De Fabritiis M,Giancaspro V,Petrarulo F,Santacroce R,Margaglione M,Gesualdo L,Ranieri E

更新日期：2008-07-01 00:00:00

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

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