Improved amino acid, bioenergetic metabolite and neurotransmitter profiles following human amnion epithelial cell transplant in intermediate maple syrup urine disease mice.

abstract：:The diagnosis of bacterial infections can be difficult and time consuming. Rapid and reliable molecular triage of potentially infected patients, particularly the young and the elderly, would prevent unnecessary hospitalizations, reduce associated medical costs, and improve the quality of care. Polymerase chain reactio...

journal_title：Molecular genetics and metabolism

authors： McCabe KM,Zhang YH,Huang BL,Wagar EA,McCabe ER

更新日期：1999-03-01 00:00:00

abstract：:We describe three novel deletions in the human AGT gene in three patients with primary hyperoxaluria type 1, an autosomal recessive disease resulting from a deficiency of the liver peroxisomal enzyme, alanine glyoxylate aminotransferase (AGT; EC 2.6.1.44). A deletion of 4 nucleotides in the exon 6/intron 6 splice junc...

journal_title：Molecular genetics and metabolism

authors： Coulter-Mackie MB,Rumsby G,Applegarth DA,Toone JR

更新日期：2001-11-01 00:00:00

abstract：:Recent studies indicate altered cholesterol homeostasis in Huntington's disease (HD) after it was found that cultured human and mice cells expressing mutant huntingtin show reduced mRNA of cholesterol biosynthetic enzymes. Plasma total cholesterol (TC) levels have been connected to degenerative disorders, but data for...

journal_title：Molecular genetics and metabolism

authors： Markianos M,Panas M,Kalfakis N,Vassilopoulos D

更新日期：2008-03-01 00:00:00

abstract：:Mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) is a rare mitochondrial disorder that has previously been associated with mutations in PUS1 and YARS2. In the present report, we describe a 6-year old male with an MLASA plus phenotype. This patient had features of MLASA in the setting of develop...

journal_title：Molecular genetics and metabolism

authors： Burrage LC,Tang S,Wang J,Donti TR,Walkiewicz M,Luchak JM,Chen LC,Schmitt ES,Niu Z,Erana R,Hunter JV,Graham BH,Wong LJ,Scaglia F

更新日期：2014-11-01 00:00:00

abstract：OBJECTIVE:To better delineate the natural history of patients with methylmalonic aciduria (MMA). STUDY DESIGN:Thirty patients with vitamin-B12-unresponsive MMA (25 aged 1.5 to 22.0 years (y) at the end of the study and 5 who died during a metabolic crisis) were managed following standardized guidelines and studied ret...

journal_title：Molecular genetics and metabolism

authors： Cosson MA,Benoist JF,Touati G,Déchaux M,Royer N,Grandin L,Jais JP,Boddaert N,Barbier V,Desguerre I,Campeau PM,Rabier D,Valayannopoulos V,Niaudet P,de Lonlay P

更新日期：2009-07-01 00:00:00

abstract：:Since 1999 an increasing number of patients with phenylalanine hydroxylase (PAH) deficiency are reported to be able to decrease their plasma phenylalanine (Phe) concentrations after a 6R-tetrahydrobiopterin (BH(4)) challenge. The majority of these patients have mild PKU or MHP (mild hyperphenylalaninemia) and harbour ...

journal_title：Molecular genetics and metabolism

authors： Spaapen LJ,Rubio-Gozalbo ME

更新日期：2003-02-01 00:00:00

abstract：:Pompe disease is a rare, autosomal recessive disorder characterized by deficiency of lysosomal acid alpha-glucosidase and accumulation of lysosomal glycogen in many tissues. The variable clinical manifestations, broad phenotypic spectrum, and overlap of signs and symptoms with other neuromuscular diseases make diagnos...

journal_title：Molecular genetics and metabolism

authors： Kishnani PS,Amartino HM,Lindberg C,Miller TM,Wilson A,Keutzer J

更新日期：2014-09-01 00:00:00

abstract：:We report a patient from a consanguineous family who presented with transient acute liver failure and biochemical patterns suggestive of disturbed urea cycle and mitochondrial function, for whom conventional genetic and metabolic investigations for acute liver failure failed to yield a diagnosis. Whole exome sequencin...

journal_title：Molecular genetics and metabolism

authors： Santra S,Cameron JM,Shyr C,Zhang L,Drögemöller B,Ross CJ,Wasserman WW,Wevers RA,Rodenburg RJ,Gupte G,Preece MA,van Karnebeek CD

更新日期：2016-05-01 00:00:00

abstract：:Growth hormone (GH) deficiency is associated with increased cardiovascular morbidity and mortality. GH treatment improves the profile of many cardiovascular risk markers in individuals with GH deficiency (GHD). The aim of the present was to assess whether GH replacement may decrease plasma total homocysteine, an indep...

journal_title：Molecular genetics and metabolism

authors： Lewandowski KC,Murray RD,Drzewoski J,O'Callaghan CJ,Czupryniak L,Hillhouse EW,Shalet SM,Randeva HS

更新日期：2003-11-01 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：:Several recent reviews describe the management of urea cycle disorders. There is much agreement on diet, alternative pathway therapy, maintenance of arginine and ornithine levels in acute and chronic management, sick-day regimens, and some aspects of monitoring. However, differences remain in several areas, and physic...

journal_title：Molecular genetics and metabolism

authors： Wilcken B

更新日期：2004-04-01 00:00:00

abstract：:The bicistronic MOCS1 gene encodes two enzymatic activities that are necessary for the biosynthesis of the molybdenum cofactor (MoCo). Mutations in either of the two consecutive open reading frames are responsible for the majority of MoCo deficiency cases and result in a complementation group A phenotype. Two cDNA seq...

journal_title：Molecular genetics and metabolism

authors： Gross-Hardt S,Reiss J

更新日期：2002-08-01 00:00:00

abstract：:Mevalonate kinase deficiency is a rare autosomal recessively inherited organic aciduria with a complex multi-systemic phenotype. We describe two deceased patients with clinically severe mevalonate kinase (MK) deficiency confirmed by MK mutation analysis. The phenotype in our patients ranged from neonatal hydrops in th...

journal_title：Molecular genetics and metabolism

authors： Prasad C,Salvadori MI,Rupar CA

更新日期：2012-12-01 00:00:00

abstract：:Metachromatic leukodystrophy is an inherited disorder characterized by a deficiency of the lysosomal enzyme arylsulfatase A and the subsequent accumulation of sulfatide in neural and visceral tissues. Clinical diagnosis is usually confirmed by in vitro analysis of arylsulfatase A activity, but may be complicated in ca...

journal_title：Molecular genetics and metabolism

authors： Whitfield PD,Sharp PC,Johnson DW,Nelson P,Meikle PJ

更新日期：2001-05-01 00:00:00

abstract：:Glycogen storage disease type Ia (GSD-Ia) is caused by deleterious mutations in the glucose-6-phosphatase gene (G6PC). A molecular study of this gene was carried out in 11 Argentinean patients from 8 unrelated families. Four missense (p.Gln54Pro, p.Arg83Cys, p.Thr16Arg, and p.Tyr209Cys) and one deletion (c.79delC) mut...

journal_title：Molecular genetics and metabolism

authors： Angaroni CJ,de Kremer RD,Argaraña CE,Paschini-Capra AE,Giner-Ayala AN,Pezza RJ,Pan CJ,Chou JY

更新日期：2004-11-01 00:00:00

abstract：:Patients with neonatal urea cycle defects (UCDs) typically have high mortality and poor neurological outcome unless they receive liver transplantation. Neurologic outcome may be better with liver transplantation before age one year. We report on a follow up on an initial prospective study performed to assess developme...

journal_title：Molecular genetics and metabolism

authors： Campeau PM,Pivalizza PJ,Miller G,McBride K,Karpen S,Goss J,Lee BH

更新日期：2010-01-01 00:00:00

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

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

abstract：:1,2,3-Benzenetricarboxylate (BTA) and n-butylmalonate (BM), specific inhibitors of the mitochondrial tricarboxylate and dicarboxylate carrier, respectively, have been used to study the contribution of citrate export from mitochondria to the accumulation of fat in 3T3-L1 cells. Continuous treatment of the cells with BT...

journal_title：Molecular genetics and metabolism

authors： Kajimoto K,Terada H,Baba Y,Shinohara Y

更新日期：2005-05-01 00:00:00

abstract：:Left ventricular noncompaction (LVNC) is a cardiomyopathy morphologically characterized by 2-layered myocardium, numerous prominent trabeculations, and deep intertrabecular recesses communicating with the left ventricular cavity. The purpose of this study was to investigate patients with LVNC for possible disease caus...

journal_title：Molecular genetics and metabolism

authors： Chang B,Nishizawa T,Furutani M,Fujiki A,Tani M,Kawaguchi M,Ibuki K,Hirono K,Taneichi H,Uese K,Onuma Y,Bowles NE,Ichida F,Inoue H,Matsuoka R,Miyawaki T,Noncompaction study collaborators.

更新日期：2011-02-01 00:00:00

abstract：:The mutation T3308C results in a Met --> Thr change at the highly conserved amino acid position 1 of the mtDNA ND1 gene (M1T). To study its potential pathogenic effect we have carried out a combination of mitochondrial protein synthesis and Northern and Western analyses. Our data demonstrate that M1T mutation does not...

journal_title：Molecular genetics and metabolism

authors： Fernández-Moreno MA,Bornstein B,Campos Y,Arenas J,Garesse R

更新日期：2000-07-01 00:00:00

abstract：:In mammals the initiation of testis determination usually depends on the Y-chromosomal gene SRY. A few species, however, escape from this rule with a testis determination that is independent of SRY. The mole vole Ellobius lutescens is one of these species. It is not known how testis determination is initiated in this ...

journal_title：Molecular genetics and metabolism

authors： Baumstark A,Akhverdyan M,Schulze A,Reisert I,Vogel W,Just W

更新日期：2001-01-01 00:00:00

abstract：:Holocarboxylase synthetase (HCS) catalyses the biotinylation of the four biotin-dependent carboxylases found in humans. A deficiency in HCS results in biotin-responsive multiple carboxylase deficiency. We have evaluated the biotin responsiveness associated with six missense mutations previously identified in affected ...

journal_title：Molecular genetics and metabolism

authors： Dupuis L,Campeau E,Leclerc D,Gravel RA

更新日期：1999-02-01 00:00:00

abstract：:TRMU is a nuclear gene crucial for mitochondrial DNA translation by encoding tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase, which thiolates mitochondrial tRNA. Biallelic pathogenic variants in TRMU are associated with transient infantile liver failure. Other less common presentations such as Leigh syndrom...

journal_title：Molecular genetics and metabolism

authors： Murali CN,Soler-Alfonso C,Loomes KM,Shah AA,Monteil D,Padilla CD,Scaglia F,Ganetzky R

更新日期：2021-01-14 00:00:00

abstract：:Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from deficiency of α-galactosidase A (GLA). Traditionally, heterozygotes were considered asymptomatic carriers of FD, but it is now apparent that the asymptomatic female carrier is the exception and most heterozygotes suffer significant multisystem...

journal_title：Molecular genetics and metabolism

authors： Fuller M,Mellett N,Hein LK,Brooks DA,Meikle PJ

更新日期：2015-02-01 00:00:00

abstract：:The mucopolysaccharidoses (MPS) are lysosomal storage disorders caused by defects in the enzymes involved in the degradation of glycosaminoglycans. Hurler syndrome (MPS I) and Sanfilippo syndrome (MPS III) are among the more common diseases in the group, each occurring with an incidence of approximately 1 in 100,000. ...

journal_title：Molecular genetics and metabolism

authors： Sun A,Hopwood JJ,Thompson J,Cederbaum SD

更新日期：2011-06-01 00:00:00

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

authors： Saada A,Shaag A,Elpeleg O

更新日期：2003-05-01 00:00:00

abstract：:Mucolipidosis type II (ML II) is a fatal, autosomal recessive, lysosomal storage disorder characterized by severe clinical and radiologic features. ML II results from mutations in alpha and beta subunits, encoded by the GlcNAc-1-phosphotransferase gene (GNPTAB). Most of the 40 different GNPTAB mutations reported so fa...

journal_title：Molecular genetics and metabolism

authors： Tappino B,Regis S,Corsolini F,Filocamo M

更新日期：2008-02-01 00:00:00

abstract：:Hypophosphatasia (HPP) is a rare inherited skeletal dysplasia due to loss of function mutations in the ALPL gene. The disease is subject to an extremely high clinical heterogeneity ranging from a perinatal lethal form to odontohypophosphatasia affecting only teeth. Up to now genetic diagnosis of HPP is performed by se...

journal_title：Molecular genetics and metabolism

authors： Taillandier A,Domingues C,De Cazanove C,Porquet-Bordes V,Monnot S,Kiffer-Moreira T,Rothenbuhler A,Guggenbuhl P,Cormier C,Baujat G,Debiais F,Capri Y,Cohen-Solal M,Parent P,Chiesa J,Dieux A,Petit F,Roume J,Isnard M,Co

更新日期：2015-11-01 00:00:00

abstract：:Genetic testing for the C282Y mutation of the HFE gene has been a major advance in the diagnosis of hereditary hemochromatosis. In most studies, more than 90% of typical hemochromatosis patients are homozygous for the C282Y mutation. Large-scale population screening studies in predominantly Caucasian populations have ...

journal_title：Molecular genetics and metabolism

authors： Adams PC

更新日期：2000-09-01 00:00:00

abstract：:Inborn defects of cholesterol biosynthesis are metabolic disorders presenting with multi-organ and tissue anomalies. An autosomal recessive defect involving the demethylating enzyme C4-methyl sterol (SC4MOL) has been reported in only 4 patients so far. In infancy, all patients were affected by microcephaly, bilateral ...

journal_title：Molecular genetics and metabolism

authors： Frisso G,Gelzo M,Procopio E,Sica C,Lenza MP,Dello Russo A,Donati MA,Salvatore F,Corso G

更新日期：2017-08-01 00:00:00