Research Papers

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A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome.
Shimbo H; Takagi M; Okuda M; Tsuyusaki Y; Takano K; Iai M; Yamashita S; Murayama K; Ohtake A; Goto YI; Aida N; Osaka H.
Mol Genet Metab Rep (Unknown)
Published: 2014
2/6 Transparent
Funding Declared
A <i>de novo</i> or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis an…
Velho RV; Alegra T; Sperb F; Ludwig NF; Saraiva-Pereira ML; Matte U; Schwartz IV.
Mol Genet Metab Rep (Unknown)
Published: 2014
2/6 Transparent
Funding Declared
Sequencing analysis of insulin receptor defects and detection of two novel mutations in <i>INSR</i> gene.
Ardon O; Procter M; Tvrdik T; Longo N; Mao R.
Mol Genet Metab Rep (Unknown)
Published: 2014
1/6 Transparent
Funding Declared
The value of neuroimaging in the assessment and follow-up of early-onset methylmalonic aciduria and homocystinuria.
de Benedictis FM; de Benedictis D.
Mol Genet Metab Rep (Unknown)
Published: 2014
Effect of isolated AMP deaminase deficiency on skeletal muscle function.
Cheng J; Morisaki H; Sugimoto N; Dohi A; Shintani T; Kimura E; Toyama K; Ikawa M; Okabe M; Higuchi I; Matsuo S; Kawai Y; Hisatome I; Sugama T; Holmes EW; Morisaki T.
Mol Genet Metab Rep (Unknown)
Published: 2014
1/6 Transparent
Funding Declared
Medium-chain triglyceride supplementation under a low-carbohydrate formula is a promising therapy for adult-onset type …
Hayasaka K; Numakura C; Toyota K; Kakizaki S; Watanabe H; Haga H; Takahashi H; Takahashi Y; Kaneko M; Yamakawa M; Nunoi H; Kato T; Ueno Y; Mori M.
Mol Genet Metab Rep (Unknown)
Published: 2014
2/6 Transparent
Funding Declared
Long-term therapeutic efficacy of allogenic bone marrow transplantation in a patient with mucopolysaccharidosis IVA.
Chinen Y; Higa T; Tomatsu S; Suzuki Y; Orii T; Hyakuna N.
Mol Genet Metab Rep (Unknown)
Published: 2014
2/6 Transparent
Funding Declared
Elevated Autophagy and Mitochondrial Dysfunction in the Smith-Lemli-Opitz Syndrome.
Chang S; Ren G; Steiner RD; Merkens L; Roullet JB; Korade Z; DiMuzio PJ; Tulenko TN.
Mol Genet Metab Rep (Unknown)
Published: 2014
1/6 Transparent
Funding Declared
Early Onset and Severe Clinical Course Associated with the m.5540G>A Mutation in <i>MT-TW.</i>
Granadillo JL; Moss T; Lewis RA; Austin EG; Kelfer H; Wang J; Wong LJ; Scaglia F.
Mol Genet Metab Rep (Unknown)
Published: 2014
1/6 Transparent
The retarded hair growth (<i>rhg</i>) mutation in mice is an allele of ornithine aminotransferase (<i>Oat</i>).
Bisaillon JJ; Radden LA; Szabo ET; Hughes SR; Feliciano AM; Nesta AV; Petrovic B; Palanza KM; Lancinskas D; Szmurlo TA; Artus DC; Kapper MA; Mulrooney JP; King TR.
Mol Genet Metab Rep (Unknown)
Published: 2014
1/6 Transparent
Funding Declared
Alkylglycerone phosphate synthase (AGPS) deficient mice: models for rhizomelic chondrodysplasia punctate type 3 (RCDP3)…
Liegel RP; Ronchetti A; Sidjanin DJ.
Mol Genet Metab Rep (Unknown)
Published: 2014
1/6 Transparent
Funding Declared
Impact of Enzyme Replacement Therapy and Hematopoietic Stem Cell Therapy on Growth in Patients with Hunter Syndrome.
Patel P; Suzuki Y; Tanaka A; Yabe H; Kato S; Shimada T; Mason RW; Orii KE; Fukao T; Orii T; Tomatsu S.
Mol Genet Metab Rep (Unknown)
Published: 2014
2/6 Transparent
Funding Declared
Biochemical and Physiological Improvement in a Mouse Model of Smith-Lemli-Opitz Syndrome (SLOS) Following Gene Transfer…
Ying L; Matabosch X; Serra M; Watson B; Shackleton C; Watson G.
Mol Genet Metab Rep (Unknown)
Published: 2014
2/6 Transparent
Funding Declared
Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia.
Murali C; Lu JT; Jain M; Liu DS; Lachman R; Gibbs RA; Lee BH; Cohn D; Campeau PM.
Mol Genet Metab Rep (Unknown)
Published: 2014
2/6 Transparent
Funding Declared
Growth charts for patients with Hunter syndrome.
Patel P; Suzuki Y; Maeda M; Yasuda E; Shimada T; Orii KE; Orii T; Tomatsu S.
Mol Genet Metab Rep (Unknown)
Published: 2014
1/6 Transparent
Funding Declared
Two novel compound heterozygous mutations in <i>OPA3</i> in two siblings with OPA3-related 3-methylglutaconic aciduria.
Lam C; Gallo LK; Dineen R; Ciccone C; Dorward H; Hoganson GE; Wolfe L; Gahl WA; Huizing M.
Mol Genet Metab Rep (Unknown)
Published: 2014
1/6 Transparent
Funding Declared
Highlighting intrafamilial clinical heterogeneity in late-onset Pompe disease.
Papadopoulos C; Papadimas GK; Michelakakis H; Kararizou E; Manta P.
Mol Genet Metab Rep (Unknown)
Published: 2013