Works matching IS 21928312 AND DT 2020 AND VI 55 AND IP 1

Results: 15

Neonatal presentation of COG6‐CDG with prominent skin phenotype.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 51, doi. 10.1002/jmd2.12154

By:

Komlosi, Katalin;
Gläser, Selina;
Kopp, Julia;
Hotz, Alrun;
Alter, Svenja;
Zimmer, Andreas D.;
Beger, Carmela;
Heinzel, Stefan;
Schmidt, Christoph;
Fischer, Judith

Publication type:

Article

Use of skimmed breast milk for an infant with a long‐chain fatty acid oxidation disorder: A novel therapeutic intervention.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 44, doi. 10.1002/jmd2.12152

By:

Kritzer, Amy;
Tarrant, Stacey;
Sussman‐Karten, Karen;
Barbas, Kimberly

Publication type:

Article

Mannose phosphate isomerase deficiency‐congenital disorder of glycosylation (MPI‐CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombophilia.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 38, doi. 10.1002/jmd2.12149

By:

Mühlhausen, Chris;
Henneke, Lisa;
Schlotawa, Lars;
Behme, Daniel;
Grüneberg, Marianne;
Gärtner, Jutta;
Marquardt, Thorsten

Publication type:

Article

Improved electroretinographic responses following dietary intervention in a patient with Refsum disease.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 32, doi. 10.1002/jmd2.12147

By:

Benson, Matthew D.;
MacDonald, Ian M.;
Sheehan, Melissa;
Jain, Shailly

Publication type:

Article

Hypoglycemia is not a defining feature of metabolic crisis in mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency: Further evidence of specific biochemical markers which may aid diagnosis.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 26, doi. 10.1002/jmd2.12146

By:

Conlon, Tracey A.;
Fitzsimons, Patricia E.;
Borovickova, Ingrid;
Kirby, Fidelma;
Murphy, Sinéad;
Knerr, Ina;
Crushell, Ellen

Publication type:

Article

Development of infantile tremor syndrome after initiation of hydroxycobalamin treatment in an infant with a late diagnosis of cobalamin C disorder.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 22, doi. 10.1002/jmd2.12145

By:

Wilson, Ashley;
Cruz, Vivian;
Kronick, Jonathan B.

Publication type:

Article

Early biochemical effects of velmanase alfa in a 7‐month‐old infant with alpha‐mannosidosis.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 15, doi. 10.1002/jmd2.12144

By:

Santoro, Lucia;
Zampini, Lucia;
Padella, Lucia;
Monachesi, Chiara;
Zampieri, Stefania;
Dardis, Andrea;
Cordiali, Rosanna;
Galeazzi, Tiziana;
Catassi, Carlo

Publication type:

Article

Reversal of ochronotic pigmentation in alkaptonuria following nitisinone therapy: Analysis of data from the United Kingdom National Alkaptonuria Centre.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 75, doi. 10.1002/jmd2.12137

By:

Ranganath, Lakshminarayan R.;
Milan, Anna M.;
Hughes, Andrew T.;
Khedr, Milad;
Davison, Andrew S.;
Wilson, Peter J.;
Dillon, Jane P.;
West, Elizabeth;
Gallagher, James A.

Publication type:

Article

Correction to: Administration of gamma‐hydroxybutyrate instead of beta‐hydroxybutyrate to a liver transplant recipient suffering from propionic acidaemia and cardiomyopathy: a case report on a medication prescribing error.

Published in:: Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 91, doi. 10.1002/jmd2.12136
Publication type:: Article

Successful management of a neonate with OTC deficiency presenting with hyperammonemia and severe cardiac dysfunction with extracorporeal membrane oxygenation support and continuous renal replacement therapy.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 12, doi. 10.1002/jmd2.12135

By:

Mattke, Adrian C.;
Shikata, Fumiaki;
McGill, James;
Justo, Rob;
Venugopal, Prem

Publication type:

Article

Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 68, doi. 10.1002/jmd2.12132

By:

Chin, Sharon J.;
Saville, Jennifer T.;
McDermott, Belinda K.;
Zankl, Andreas;
Fletcher, Janice M.;
Fuller, Maria

Publication type:

Article

Use of carglumic acid in valproate‐induced hyperammonemia: 25 pediatric cases.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 3, doi. 10.1002/jmd2.12131

By:

Palomino Pérez, Laura María;
Martín‐Rivada, Álvaro;
Cañedo Villaroya, Elvira;
García‐Peñas, Juan José;
Cuervas‐Mons Vendrell, Margarita;
Pedrón‐Giner, Consuelo

Publication type:

Article

Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 59, doi. 10.1002/jmd2.12130

By:

Carducci, Carla;
Amayreh, Wajdi;
Ababneh, Haneen;
Mahasneh, Amjad;
Al Rababah, Buthaina;
Al Qaqa, Kefah;
Al Aqeel, Momen;
Artiola, Cristiana;
Tolve, Manuela;
D'Amici, Sirio;
Shen, Nan;
Yu, Yongguo;
Hillert, Alicia;
Himmelreich, Nastassja;
Okun, Jürgen G.;
Hoffmann, Georg F.;
Blau, Nenad

Publication type:

Article

GYG1: A distal myopathy with polyglucosan bodies.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 88, doi. 10.1002/jmd2.12129

By:

Nicolau, Stefan;
Tracy, Jennifer A.;
Pisapia, David J.;
Tanji, Kurenai;
Milone, Margherita

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 1, doi. 10.1002/jmd2.12105
Publication type:: Article