Neurocognitive functioning in adults with phenylketonuria: Report of a 10-year follow-up.

abstract：:Glycogen storage disease type I (GSD I) is caused by inherited defects of the glucose 6-phosphatase complex, resulting in fasting hypoglycemia, lactic acidosis, hyperuricemia and hyperlipidemia. Sixteen out of 26 (61.5%) GSD I patients in our study had suboptimal levels (<30 ng/ml) of 25-hydroxyvitamin-D (25(OH)D) des...

journal_title：Molecular genetics and metabolism

authors： Banugaria SG,Austin SL,Boney A,Weber TJ,Kishnani PS

更新日期：2010-04-01 00:00:00

abstract：:A common variant (rs4712652) adjacent to the prolactin gene was recently associated with obesity using a genome-wide association study. The aim of this study was to replicate the association between rs4712652 and obesity and further examine if rs4712652 is associated with fat percentage and adiponectin levels in a pop...

journal_title：Molecular genetics and metabolism

authors： Nilsson L,Olsson AH,Isomaa B,Groop L,Billig H,Ling C

更新日期：2011-01-01 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：:Saposin A is a post-translation product of the prosaposin (PSAP) gene that serves as an activator protein of the galactocerebrosidase (GALC) enzyme, and is necessary for the degradation of certain glycosphingolipids. Deficiency of saposin A leads to a clinical picture identical to that of early-infantile Krabbe diseas...

journal_title：Molecular genetics and metabolism

authors： Calderwood L,Wenger DA,Matern D,Dahmoush H,Watiker V,Lee C

更新日期：2020-02-01 00:00:00

abstract：:Propionic acidemia can result from mutations in the PCCA or PCCB genes encoding the alpha and beta subunits, respectively, of propionyl-CoA carboxylase. We have developed a method based on complementation of the enzyme defect using a lipid-mediated transient transfection of the normal human PCCA or PCCB cDNA into prim...

journal_title：Molecular genetics and metabolism

authors： Rodriguez-Pombo P,Pérez-Cerdá C,Desviat LR,Pérez B,Ugarte M,Rodríguez-Pombo P

更新日期：2002-03-01 00:00:00

abstract：:To elucidate the interference mechanisms of valproate (VPA) with mitochondrial fatty acid beta-oxidation (FAO), the profile of acylcarnitine formation was studied in vitro. Human fibroblasts were incubated with 0.2 mmol/L [U-(13)C]palmitate, 0.4 mmol/L l-carnitine, +/- VPA (2 mmol/L) (96 h at 37 degrees C). Acylcarnit...

journal_title：Molecular genetics and metabolism

authors： Silva MF,Jakobs C,Duran M,de Almeida IT,Wanders RJ

更新日期：2001-08-01 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：:Fat cell lipolysis, the cleavage of triglycerides and release of fatty acids and glycerol, evolved to enable survival during prolonged food deprivation but is paradoxically increased in obesity, in which a surfeit of all energy metabolites is found. Essential, previously-unsuspected components have been discovered in ...

journal_title：Molecular genetics and metabolism

authors： Wang S,Soni KG,Semache M,Casavant S,Fortier M,Pan L,Mitchell GA

更新日期：2008-11-01 00:00:00

abstract：:Severe neurological deficits and mental retardation are frequently associated with disrupted ganglioside metabolism in a variety of gangliosidoses and lysosomal storage disorders. Accumulation of glycosphingolipids (GSLs) in the central nervous system (CNS) of humans and animals affected with several types of mucopoly...

journal_title：Molecular genetics and metabolism

authors： Liour SS,Jones MZ,Suzuki M,Bieberich E,Yu RK

更新日期：2001-03-01 00:00:00

abstract：:Pompe disease results from inherited deficiency of the enzyme acid alpha-glucosidase resulting in lysosomal accumulation of glycogen primarily in skeletal muscle. Reported is the first case in which a donor with late onset Pompe disease (LOPD) was successfully used for deceased donor liver and kidney transplantation. ...

journal_title：Molecular genetics and metabolism

authors： Halldorson J,Kazi Z,Mekeel K,Kuo A,Hassanein T,Loomba R,Austin S,Valasek MA,Kishnani P,Hemming AW

更新日期：2015-08-01 00:00:00

abstract：:This report compares statistical models based on molecular and inferred haplotypes of the human paraoxonase-1 gene (PON1). In a study of 402 women comprising three race/ethnicities, 137 women had ambiguous inferred haplotypes. The inferred haplotypes (the one with highest posterior probability) for 20 of these women d...

journal_title：Molecular genetics and metabolism

authors： Wallenstein S,Chen J,Wetmur JG

更新日期：2006-11-01 00:00:00

abstract：:Human reproductive function is regulated mainly by luteinizing hormone (LH) and follicle-stimulating hormone (FSH). Mutations of the human LH/ chorionic gonadotropin receptor (LHR) and the FSH receptor (FSHR) leading to either constitutive activation or inactivation of the receptors have been identified. All activatin...

journal_title：Molecular genetics and metabolism

authors： Chan WY

更新日期：1998-02-01 00:00:00

abstract：BACKGROUND:There appears little consensus concerning protein requirements in phenylketonuria (PKU). METHODS:A questionnaire completed by 63 European and Turkish IMD centres from 18 countries collected data on prescribed total protein intake (natural/intact protein and phenylalanine-free protein substitute [PS]) by age...

journal_title：Molecular genetics and metabolism

authors： Aguiar A,Ahring K,Almeida MF,Assoun M,Belanger Quintana A,Bigot S,Bihet G,Blom Malmberg K,Burlina A,Bushueva T,Caris A,Chan H,Clark A,Clark S,Cochrane B,Corthouts K,Dalmau J,Dassy M,De Meyer A,Didycz B,Diels M,D

更新日期：2015-05-01 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：: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：:Congenital analbuminemia is a rare autosomal recessive disorder characterized by a trace level of albumin in blood plasma and mild clinical symptoms. Analbuminemic patients generally present associated abnormalities, among which dyslipidemia is a hallmark. In this study, we show that mitochondria isolated from differe...

journal_title：Molecular genetics and metabolism

authors： Figueira TR,Castilho RF,Saito A,Oliveira HC,Vercesi AE

更新日期：2011-12-01 00:00:00

abstract：:Solubilized A1 adenosine receptor (A1AR) was used to investigate the effect of several cations on agonist-binding characteristics and GTP hydrolysis. It was shown by Western blot with G beta-M14 that this preparation contains both G proteins and receptor. The role of the receptor molecule is to facilitate the activati...

journal_title：Molecular genetics and metabolism

authors： Minelli A,Allegrucci C,Rosati R,Mezzasoma I

更新日期：1998-03-01 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：: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：:Recently, new genes and molecular mechanisms have been identified in patients with porphyrias and sideroblastic anemias (SA). They all modulate either directly or indirectly the δ-aminolevulinic acid synthase (ALAS) activity. ALAS, is encoded by two genes: the erythroid-specific (ALAS2), and the ubiquitously expressed...

journal_title：Molecular genetics and metabolism

authors： Peoc'h K,Nicolas G,Schmitt C,Mirmiran A,Daher R,Lefebvre T,Gouya L,Karim Z,Puy H

更新日期：2019-11-01 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：:Phenylketonuria (PKU) is caused by mutations in the phenylalanine hydroxylase gene (PAH), while mutations in genes encoding the two enzymes (dihydropteridine reductase, DHPR, and pterin-4-alpha-carbinolamine dehydratase, PCD) required for recycling of its cofactor, tetrahydrobiopterin (BH(4)), cause other rarer diseas...

journal_title：Molecular genetics and metabolism

authors： Waters PJ,Scriver CR,Parniak MA

更新日期：2001-07-01 00:00:00

abstract：:The deficiency of a lysosomal enzyme, aspartylglucosaminidase, results in a lysosomal storage disorder, aspartylglucosaminuria, manifesting as progressive mental retardation. To understand tissue pathogenesis and disease progression we analyzed the developmental expression of the enzyme, especially in brain, which is ...

journal_title：Molecular genetics and metabolism

authors： Uusitalo A,Tenhunen K,Heinonen O,Hiltunen JO,Saarma M,Haltia M,Jalanko A,Peltonen L

更新日期：1999-08-01 00:00:00

abstract：:Carnitine-acylcarnitine translocase (CAC) deficiency is a rare autosomal recessive disorder of long-chain fatty acid oxidation with a severe outcome. We report mutation analysis in a cohort of 12 patients. Twelve mutations were identified of which 9 have not been reported so far (G28C, D32N, R178Q, P230R, D231H, 179de...

journal_title：Molecular genetics and metabolism

authors： Costa C,Costa JM,Slama A,Boutron A,Vequaud C,Legrand A,Brivet M

更新日期：2003-01-01 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：:The aim of this study was to investigate the genetic background of familial clustering of diabetes using genome-wide linkage analysis combined with exome sequencing. We recruited a Japanese family with a 3-generation history of diabetes. The family comprised 16 members, 13 having been diagnosed with diabetes. Nine mem...

journal_title：Molecular genetics and metabolism

authors： Tanaka D,Nagashima K,Sasaki M,Funakoshi S,Kondo Y,Yasuda K,Koizumi A,Inagaki N

更新日期：2013-05-01 00:00:00

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

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

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

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

abstract：:Fish-odor syndrome or trimethylaminuria, is a rare inborn error of metabolism inherited in an autosomal recessive fashion, involving the dysfunction of hepatic enzyme flavin-containing monooxygenase 3 (FMO3) that converts fishy-smelling trimethylamine (TMA) into odorless trimethylamine-N-oxide (TMAO). This confers, to...

journal_title：Molecular genetics and metabolism

authors： Teresa E,Lonardo F,Fiumara A,Lombardi C,Russo P,Zuppi C,Scarano G,Musumeci S,Gianfrancesco F

更新日期：2006-06-01 00:00:00

abstract：:N-acetylglutamate (NAG) is a unique enzyme cofactor, essential for liver ureagenesis in mammals while it is the first committed substrate for de novo arginine biosynthesis in microorganisms and plants. The enzyme that produces NAG from glutamate and CoA, NAG synthase (NAGS), is allosterically inhibited by arginine in ...

journal_title：Molecular genetics and metabolism

authors： Caldovic L,Ah Mew N,Shi D,Morizono H,Yudkoff M,Tuchman M

更新日期：2010-01-01 00:00:00