Results 81 to 90 of about 8,189 (189)

以串聯質譜儀篩檢新生兒甲基 丙二酸血症之七年臺灣經驗

, 2011
Background: The clinical course of methylmalonic aciduria ( MMA) is fulminant in neonates and emergency management is necessary to save lives. It is therefore very important to differentiate affected from unaffected neonates immediately when there are ...
CHENG, KANG-HSIANG;LIU, MEI-YING;KAO, CHUAN-HONG;CHEN, YANN-JANG;HSIAO, KWANG-JEN;LIU, TZE-TZE;LIN, HSIANG-YU;NIU, DAU-MING;CHIANG, CHUAN-CHI;LIN, JU-LI;LIN, SHUAN-PEI;LEE, NI-CHUNG;HWU, WUH-LIANG, 鄭康祥;劉美英;高銓宏;陳燕彰;蕭廣仁;劉孜孜;林翔宇;牛道明;江傳箕;林如立;林炫沛;李妮鍾;胡務亮   +1 more
core   +1 more source

Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria

BMC Medical Genetics, 2018
Background We sought to analyse MMACHC variants among 126 pedigrees with cobalamin (cbl) C deficiency and combined methylmalonic aciduria and homocystinuria by Sanger sequencing, characterize the spectrum of MMACHC gene variants, and perform prenatal ...
Shuang Hu, Shiyue Mei, Ning Liu, Xiangdong Kong   +3 more
doaj   +1 more source

Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy.

, 2010
Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B(12) (cobalamin) metabolism. The recent cloning of the disease gene, MMACHC, has permitted genotype-phenotype correlation.
Tavazzi, Barbara
core  

A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria

, 2009
Mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria is associated with mutations in SUCLA2, the gene encoding a beta subunit of succinate-CoA ligase, where 17 patients have been reported.
Hjalmarson, Ola, Holme, Elisabeth,, Østergaard, Elsebet, Christensen, Ernst, Hjalmarson, Ola,, Schwartz, Marianne, Batbayli, Mustafa, Kollberg, Gittan,, Kollberg, Gittan, Holme, Elisabeth, Ostergaard, Elsebet, Ola Hjalmarson, Gittan Kollberg, Mustafa Batbayli, Marianne Schwartz, Elsebet Ostergaard, Ernst Christensen, Elisabeth Holme   +17 more
core   +1 more source

Rising Inpatient Demands for Inherited Metabolic Disorders: Impact on Pediatric Capacity

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1423-1426, June 2026.
Maria Paula Silva, Kirsten Havens, Katherine Arduini, Anne Kozek, Erika Vucko, Joel Charrow, Joshua Baker, Carlos E. Prada   +7 more
wiley   +1 more source

Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle

BMC Medical Genetics, 2007
Background Mutations in methylmalonyl-CoA mutase cause methylmalonic acidemia, a common organic aciduria. Current treatment regimens rely on dietary management and, in severely affected patients, liver or combined liver-kidney transplantation.
Kaestner Klaus H, Allen Robert, Stabler Sally, Tsai Matthew, Fu Hong, Sloan Jennifer, Chandler Randy J, Kazazian Haig H, Venditti Charles P   +8 more
doaj   +1 more source

EEG in assessing hydroxycobalamin therapy in neonatal methylmalonic aciduria with homocystinuria

, 2000
We performed serial electroencephalograms (EEG) in a newborn with methylmalonic aciduria and homocystinuria to assess the effects of hydroxycobalamin (OHcbl) therapy on the CNS.
CV Bellieni, FARNETANI, M., CIONI, M., F. Bagnoli, FERRARI, Fabrizio, BUONOCORE, G., M. Farnetani, BAGNOLI, F., C. De Felice, FERRARI, F., MG Gatti, G. Buonocore, M. Cioni, GATTI, M. G., DE FELICE, C., BELLIENI, C. V.   +15 more
core   +1 more source

Intracellular Cobalamin Defect in Early Infancy: A Cause of Hypotonia and Cytopenias

Case Reports in Medicine
Intracellular cobalamin metabolism defects (ICMDs) are rare but inherited disorders that disrupt the conversion of cobalamin into its active cofactors, methylcobalamin and adenosylcobalamin. We report a 40-day-old female infant with progressive hypotonia,
Maryam Saeedi, Razieh Sangsari, Parastoo Rostami, Kayvan Mirnia, Sedigheh Shams, Sepideh Rahmati   +5 more
doaj   +1 more source

Clinical diagnosis, treatment, and genetic analysis of adolescent onset holocarboxylase synthetase deficiency and cobalamin C deficiency: A case report and literature review

Metabolism Open
Background: Holocarboxylase Synthetase Deficiency (HCSD) is an uncommon autosomal recessive genetic disorder that manifests with symptoms such as metabolic acidosis, lethargy, hypotonia, seizures, and persistent rashes, typically emerging during infancy.
Ye Ren, Hongxing Dang, Yueqiang Fu, Chengjun Liu, Jing Li, Jinhua Cai   +5 more
doaj   +1 more source

Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria. [PDF]

Hum Mol Genet, 2023
Lucienne M, Gerlini R, Rathkolb B, Calzada-Wack J, Forny P, Wueest S, Kaech A, Traversi F, Forny M, Bürer C, Aguilar-Pimentel A, Irmler M, Beckers J, Sauer S, Kölker S, Dewulf JP, Bommer GT, Hoces D, Gailus-Durner V, Fuchs H, Rozman J, Froese DS, Baumgartner MR, de Angelis MH.   +23 more
europepmc   +1 more source