Pilot study of mass screening for Wilson's disease in Korea.

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：:Combined alpha-delta platelet storage pool deficiency is characterized by the absence or reduction in the number of both alpha granules and dense bodies. This disorder can have variable severity as well as a variable inheritance pattern. We describe two patients from unrelated families with combined alpha-delta storag...

journal_title：Molecular genetics and metabolism

authors： Ferreira CR,Chen D,Abraham SM,Adams DR,Simon KL,Malicdan MC,Markello TC,Gunay-Aygun M,Gahl WA

更新日期：2017-03-01 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：:Self-organization of living cells results from the tangle of positive and negative feedback developed to ensure their homeostasis and/or their differentiation. There are three major means cellular regulation operates: the genetic, the epigenetic, and the metabolic ones. The regulation type in each of them has been ove...

journal_title：Molecular genetics and metabolism

authors： Roux-Rouquie M

更新日期：2000-09-01 00:00:00

abstract：:Anophthalmia and microphthalmia (A/M) are significant eye defects because they can have profound effects on visual acuity. A/M is associated with non-ocular abnormalities in an estimated 33-95% of cases and around 25% of patients have an underlying genetic syndrome that is diagnosable. Syndrome recognition is importan...

journal_title：Molecular genetics and metabolism

authors： Slavotinek AM

更新日期：2011-12-01 00:00:00

abstract：:Isovaleric acidemia (IVA), a rare recessive autosomal disorder, is caused by isovaleryl-CoA dehydrogenase (IVD) deficiency. IVA may present with symptoms during the acute stage of severe metabolic acidosis, ketosis, vomiting, and altered mental status. With the help of newborn screening (NBS) by tandem mass spectromet...

journal_title：Molecular genetics and metabolism

authors： Lin WD,Wang CH,Lee CC,Lai CC,Tsai Y,Tsai FJ

更新日期：2007-02-01 00:00:00

abstract：:Alterations in the ferrochelatase gene (FECH) are the basis of the phenotypic expressions in erythropoietic protoporphyria. The phenotype is due to the presence of a mutation in the FECH gene associated in trans to the c.315-48 T > C variant in the intron 3. The latter is able to increase the physiological quota of al...

journal_title：Molecular genetics and metabolism

authors： Brancaleoni V,Granata F,Missineo P,Fustinoni S,Graziadei G,Di Pierro E

更新日期：2018-08-01 00:00:00

abstract：:Among the numerous congenital disorders of glycosylation concerning glycoproteins, only a single mutation in ganglioside biosynthesis had been reported until a few years ago: one in the ST3GAL5 gene, encoding GM3 synthase. More recently, additional mutations in the same gene were reported, together with several distin...

journal_title：Molecular genetics and metabolism

authors： Trinchera M,Parini R,Indellicato R,Domenighini R,dall'Olio F

更新日期：2018-08-01 00:00:00

abstract：:Betaine-homocysteine methyltransferase (BHMT) catalyzes the remethylation of homocysteine. BHMT2 encodes a protein 73% identical in amino acid sequence to BHMT, but the function of BHMT2 remains unclear. We set out to identify and functionally characterize common genetic variation in BHMT and BHMT2. Specifically, we s...

journal_title：Molecular genetics and metabolism

authors： Li F,Feng Q,Lee C,Wang S,Pelleymounter LL,Moon I,Eckloff BW,Wieben ED,Schaid DJ,Yee V,Weinshilboum RM

更新日期：2008-07-01 00:00:00

abstract：:In Duchenne muscular dystrophy (DMD), identification of one nonsense mutation in the DMD gene has been considered an endpoint of genetic diagnosis. Here, we identified two closely spaced nonsense mutations in the DMD gene. In a Malaysian DMD patient two nonsense mutations (p.234S>X and p.249Q>X, respectively) were ide...

journal_title：Molecular genetics and metabolism

authors： Rani AQ,Malueka RG,Sasongko TH,Awano H,Lee T,Yagi M,Zilfalil BA,Salmi AB,Takeshima Y,Zabidi-Hussin ZA,Matsuo M

更新日期：2011-07-01 00:00:00

abstract：:Pelizaeus-Merzbacher-like disease (PMLD) is a clinically and genetically heterogeneous neurological disorder of cerebral hypomyelination. It is clinically characterised by early onset (usually infantile) nystagmus, impaired motor development, ataxia, choreoathetoid movements, dysarthria and progressive limb spasticity...

journal_title：Molecular genetics and metabolism

authors： Meyer E,Kurian MA,Morgan NV,McNeill A,Pasha S,Tee L,Younis R,Norman A,van der Knaap MS,Wassmer E,Trembath RC,Brueton L,Maher ER

更新日期：2011-12-01 00:00:00

abstract：:Glycogen storage disease type-Ia (GSD-Ia) patients deficient in glucose-6-phosphatase-α (G6Pase-α or G6PC) manifest impaired glucose homeostasis characterized by fasting hypoglycemia, growth retardation, hepatomegaly, nephromegaly, hyperlipidemia, hyperuricemia, and lactic acidemia. Two efficacious recombinant adeno-a...

journal_title：Molecular genetics and metabolism

authors： Lee YM,Pan CJ,Koeberl DD,Mansfield BC,Chou JY

更新日期：2013-11-01 00:00:00

abstract：:Personalized medicine is receiving increasing attention in the medical literature and lay press as one way to optimize therapy and reduce complications of treatment for almost any disorder. However, understanding the systemic complexities necessary to implement the ambitious goals of personalized medicine is unlikely ...

journal_title：Molecular genetics and metabolism

authors： Arnold GL,Vockley J

更新日期：2011-09-01 00:00:00

abstract：:Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by variable degrees of oculocutaneous albinism, easy bruisability, and bleeding as a result of deficient platelet dense bodies, and recurrent infections, with neutropenia, impaired chemotaxis and bactericidal activity, and abnormal NK ...

journal_title：Molecular genetics and metabolism

authors： Introne W,Boissy RE,Gahl WA

更新日期：1999-10-01 00:00:00

abstract：:Creatine and creatine phosphate provide storage and transmission of phosphate-bound energy in muscle and brain. Of the three inborn errors of creatine metabolism causing brain creatine depletion, l-arginine:glycine amidinotransferase (AGAT) deficiency has been described in only two families. We describe clinical and b...

journal_title：Molecular genetics and metabolism

authors： Edvardson S,Korman SH,Livne A,Shaag A,Saada A,Nalbandian R,Allouche-Arnon H,Gomori JM,Katz-Brull R

更新日期：2010-10-01 00:00:00

abstract：:In about 20-30% of phenylketonuria (PKU) patients, phenylalanine (Phe) levels can be controlled by cofactor 6R-tetrahydrobiopterin (BH(4)) administration. The phenylalanine hydroxylase (PAH) genotype has a predictive value concerning BH(4)-response and therefore a correct assessment of the mutation molecular pathology...

journal_title：Molecular genetics and metabolism

authors： Heintz C,Dobrowolski SF,Andersen HS,Demirkol M,Blau N,Andresen BS

更新日期：2012-08-01 00:00:00

abstract：:Caenorhabditis elegans affords a model of primary mitochondrial dysfunction that provides insight into cellular adaptations which accompany mutations in nuclear genes that encode mitochondrial proteins. To this end, we characterized genome-wide expression profiles of C. elegans strains with mutations in nuclear-encode...

journal_title：Molecular genetics and metabolism

authors： Falk MJ,Zhang Z,Rosenjack JR,Nissim I,Daikhin E,Nissim I,Sedensky MM,Yudkoff M,Morgan PG

更新日期：2008-04-01 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：:Small molecules called pharmacological chaperones have been shown to improve the stability, intracellular localization, and function of mutated enzymes in several lysosomal storage diseases, and proposed as promising therapeutic agents for them. However, a chaperone compound for mucopolysaccharidosis type II (MPS II),...

journal_title：Molecular genetics and metabolism

authors： Hoshina H,Shimada Y,Higuchi T,Kobayashi H,Ida H,Ohashi T

更新日期：2018-02-01 00:00:00

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

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

abstract：:Tandem mass spectrometry (MS/MS) has been introduced in several newborn screening programs for the detection of a large number of inborn errors of metabolism, including fatty acid oxidation disorders (FAOD). Early identification and treatment of FAOD have the potential to improve outcome and may be life-saving in some...

journal_title：Molecular genetics and metabolism

authors： Hintz SR,Matern D,Strauss A,Bennett MJ,Hoyme HE,Schelley S,Kobori J,Colby C,Lehman NL,Enns GM

更新日期：2002-02-01 00:00:00

abstract：:Among the phenotypes associated with Gaucher disease, the deficiency of glucocerebrosidase, are rare patients with early onset, treatment-refractory parkinsonism. Sequencing of glucocerebrosidase in 17 such patients revealed 12 different genotypes. Fourteen patients had the common "non-neuronopathic" N370S mutation, i...

journal_title：Molecular genetics and metabolism

authors： Tayebi N,Walker J,Stubblefield B,Orvisky E,LaMarca ME,Wong K,Rosenbaum H,Schiffmann R,Bembi B,Sidransky E

更新日期：2003-06-01 00:00:00

abstract：:Lung dysfunction is an important part of the pathology of the neurodegenerative disorder, Niemann-Pick C1 (NPC1). We have studied the pulmonary disease in the Npc1(NIH/NIH) mouse model. On histology, we find large numbers of alveolar foamy macrophages but no alveolar proteinosis. Lung weight as percent of body weight ...

journal_title：Molecular genetics and metabolism

authors： Muralidhar A,Borbon IA,Esharif DM,Ke W,Manacheril R,Daines M,Erickson RP

更新日期：2011-06-01 00:00:00

abstract：:Porphyria cutanea tarda (PCT) is caused by decreased activity of uroporphyrinogen decarboxylase (UROD) in the liver. The disease usually occurs in adulthood and is characterized by cutaneous photosensitivity, hyperpigmentation, skin fragility and hypertrichosis, due to the accumulation of porphyrins produced by oxidat...

journal_title：Molecular genetics and metabolism

authors： Méndez M,Rossetti MV,Gómez-Abecia S,Morán-Jiménez MJ,Parera V,Batlle A,Enríquez de Salamanca R

更新日期：2012-04-01 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：: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

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

更新日期：2009-11-01 00:00:00

abstract：:Mucopolysaccharidoses (MPS) are caused by deficiency of lysosomal enzyme activities needed to degrade glycosaminoglycans (GAGs), which are long unbranched polysaccharides consisting of repeating disaccharides. GAGs include: chondroitin sulfate (CS), dermatan sulfate (DS), heparan sulfate (HS), keratan sulfate (KS), an...

journal_title：Molecular genetics and metabolism

authors： Tomatsu S,Fujii T,Fukushi M,Oguma T,Shimada T,Maeda M,Kida K,Shibata Y,Futatsumori H,Montaño AM,Mason RW,Yamaguchi S,Suzuki Y,Orii T

更新日期：2013-09-01 00:00:00

abstract：:Late onset Pompe disease (LOPD) is a rare muscle disorder often characterized, along the disease course, by severe respiratory failure. We describe herein respiratory muscles and lung abnormalities in LOPD patients using MR imaging and CT examinations correlated to pulmonary function tests. Ten LOPD patients were stud...

journal_title：Molecular genetics and metabolism

authors： Gaeta M,Barca E,Ruggeri P,Minutoli F,Rodolico C,Mazziotti S,Milardi D,Musumeci O,Toscano A

更新日期：2013-11-01 00:00:00

abstract：:Methylcrotonylglycinuria (MCG) is an inborn error of leucine catabolism and has a recessive pattern of inheritance that results from the deficiency of 3-methylcrotonyl-CoA carboxylase (MCC). The clinical phenotypes are highly variable ranging from neonatal onset with severe neurological involvement to asymptomatic adu...

journal_title：Molecular genetics and metabolism

authors： Nguyen KV,Naviaux RK,Patra S,Barshop BA,Nyhan WL

更新日期：2011-02-01 00:00:00

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

authors： Morimoto K,Lin S,Sakamoto K

更新日期：2007-04-01 00:00:00