Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Quo vadis: the re-definition of "inborn metabolic diseases".

Literature DB >> 26420281

Quo vadis: the re-definition of "inborn metabolic diseases".

Eva Morava^1,2, Shamima Rahman³, Verena Peters⁴, Matthias R Baumgartner⁵, Marc Patterson⁶, Johannes Zschocke⁷.

Abstract

Entities: Disease

Mesh：

Year: 2015 PMID： 26420281 DOI： 10.1007/s10545-015-9893-x

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

× No keyword cloud information.

18 in total

Review 1. Neurological aspects of human glycosylation disorders.

Authors: Hudson H Freeze; Erik A Eklund; Bobby G Ng; Marc C Patterson
Journal: Annu Rev Neurosci Date: 2015-04-02 Impact factor: 12.449

2. The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans.

Authors: Marianna Caterino; Anna Pastore; Maria Grazia Strozziero; Gianna Di Giovamberardino; Esther Imperlini; Emanuela Scolamiero; Laura Ingenito; Sara Boenzi; Ferdinando Ceravolo; Diego Martinelli; Carlo Dionisi-Vici; Margherita Ruoppolo
Journal: J Inherit Metab Dis Date: 2015-01-14 Impact factor: 4.982

3. An overview of inborn errors of complex lipid biosynthesis and remodelling.

Authors: Foudil Lamari; Fanny Mochel; Jean-Marie Saudubray
Journal: J Inherit Metab Dis Date: 2014-09-20 Impact factor: 4.982

4. Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation.

Authors: Marta Kanabus; Rojeen Shahni; José W Saldanha; Elaine Murphy; Vincent Plagnol; William Van't Hoff; Simon Heales; Shamima Rahman
Journal: J Inherit Metab Dis Date: 2015-01-18 Impact factor: 4.982

Review 5. Skin manifestations in CDG.

Authors: D Rymen; J Jaeken
Journal: J Inherit Metab Dis Date: 2014-02-20 Impact factor: 4.982

6. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

Authors: Uwe Kornak; Ellen Reynders; Aikaterini Dimopoulou; Jeroen van Reeuwijk; Bjoern Fischer; Anna Rajab; Birgit Budde; Peter Nürnberg; Francois Foulquier; Dirk Lefeber; Zsolt Urban; Stephanie Gruenewald; Wim Annaert; Han G Brunner; Hans van Bokhoven; Ron Wevers; Eva Morava; Gert Matthijs; Lionel Van Maldergem; Stefan Mundlos
Journal: Nat Genet Date: 2007-12-23 Impact factor: 38.330

7. Disease severity and clinical outcome in phosphosglucomutase deficiency.

Authors: Eva Morava; Sunnie Wong; Dirk Lefeber
Journal: J Inherit Metab Dis Date: 2015-03 Impact factor: 4.982

8. Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

Authors: Johannes A Mayr; Tobias B Haack; Elisabeth Graf; Franz A Zimmermann; Thomas Wieland; Birgit Haberberger; Andrea Superti-Furga; Janbernd Kirschner; Beat Steinmann; Matthias R Baumgartner; Isabella Moroni; Eleonora Lamantea; Massimo Zeviani; Richard J Rodenburg; Jan Smeitink; Tim M Strom; Thomas Meitinger; Wolfgang Sperl; Holger Prokisch
Journal: Am J Hum Genet Date: 2012-01-26 Impact factor: 11.025

9. Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking.

Authors: Sylvia Stockler; Silvia Corvera; David Lambright; Kevin Fogarty; Ekaterina Nosova; Deborah Leonard; Robert Steinfeld; Cameron Ackerley; Casper Shyr; Nicolas Au; Kathrin Selby; Margot van Allen; Hilary Vallance; Ron Wevers; David Watkins; David Rosenblatt; Colin J Ross; Elizabeth Conibear; Wyeth Wasserman; Clara van Karnebeek
Journal: Orphanet J Rare Dis Date: 2014-09-20 Impact factor: 4.123

Review 10. Mitochondrial diseases.

Authors: Anthony H V Schapira
Journal: Lancet Date: 2012-04-05 Impact factor: 79.321

19 in total

1. Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program.

Authors: Rosa Navarrete; Fátima Leal; Ana I Vega; Ana Morais-López; María Teresa Garcia-Silva; Elena Martín-Hernández; Pilar Quijada-Fraile; Ana Bergua; Inmaculada Vives; Inmaculada García-Jiménez; Raquel Yahyaoui; Consuelo Pedrón-Giner; Amaya Belanger-Quintana; Sinziana Stanescu; Elvira Cañedo; Oscar García-Campos; María Bueno-Delgado; Carmen Delgado-Pecellín; Isidro Vitoria; María Dolores Rausell; Elena Balmaseda; Mari Luz Couce; Lourdes R Desviat; Begoña Merinero; Pilar Rodríguez-Pombo; Magdalena Ugarte; Celia Pérez-Cerdá; Belén Pérez
Journal: Eur J Hum Genet Date: 2019-01-09 Impact factor: 4.246

Quo vadis: the re-definition of "inborn metabolic diseases".

Review 1. Neurological aspects of human glycosylation disorders.

2. The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans.

3. An overview of inborn errors of complex lipid biosynthesis and remodelling.

4. Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation.

Review 5. Skin manifestations in CDG.

6. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

7. Disease severity and clinical outcome in phosphosglucomutase deficiency.

8. Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

9. Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking.

Review 10. Mitochondrial diseases.

1. Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program.

Review 2. Metabolic pathways at the crossroads of diabetes and inborn errors.

3. Guidelines on homocystinurias and methylation defects: a harmonized approach to diagnosis and management.

Review 4. The utility of phenomics in diagnosis of inherited metabolic disorders.

5. Modeling Splicing Variants Amenable to Antisense Therapy by Use of CRISPR-Cas9-Based Gene Editing in HepG2 Cells.

6. Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review.

7. Metabolism of sulfur compounds in homocystinurias.

8. An international classification of inherited metabolic disorders (ICIMD).

Review 9. Neurometabolic disorders: Five new things.

Review 10. Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria.