Works matching IS 21928312 AND DT 2021 AND VI 57 AND IP 1

Results: 15

Outcomes of patients with cobalamin C deficiency: A single center experience.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 102, doi. 10.1002/jmd2.12179

By:

Bourque, Danielle K.;
Mellin‐Sanchez, Lizbeth E.;
Bullivant, Garrett;
Cruz, Vivian;
Feigenbaum, Anette;
Hewson, Stacy;
Raiman, Julian;
Schulze, Andreas;
Siriwardena, Komudi;
Mercimek‐Andrews, Saadet

Publication type:

Article

Three successful pregnancies in a patient with glycogen storage disease type 0.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 38, doi. 10.1002/jmd2.12178

By:

Grünert, Sarah C.;
Rosenbaum‐Fabian, Stefanie;
Hannibal, Luciana;
Schumann, Anke;
Spiekerkötter, Ute

Publication type:

Article

Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathy.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 29, doi. 10.1002/jmd2.12177

By:

Donoghue, Sarah E.;
White, Susan M.;
Tan, Tiong Yang;
Kowalski, Remi;
Morava, Eva;
Yaplito‐Lee, Joy

Publication type:

Article

Three‐year follow up of using combination therapy with fresh‐frozen plasma and iron chelation in a patient with acaeruloplasminemia.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 23, doi. 10.1002/jmd2.12176

By:

Tridimas, Andreas;
Gillett, Godfrey T.;
Pollard, Sally;
Sadasivam, Nandini;
Williams, Adrian;
Mellor, Kirsty;
Catchpole, Anthony;
Stepien, Karolina M.

Publication type:

Article

Pancreatitis in multiple acyl CoA dehydrogenase deficiency: An underdiagnosed complication.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 15, doi. 10.1002/jmd2.12175

By:

Elkhateeb, Nour;
Chakrapani, Anupam;
Davison, James;
Grunewald, Stephanie;
Batzios, Spyros

Publication type:

Article

Quantitative whole‐body magnetic resonance imaging in children with Pompe disease: Clinical tools to evaluate severity of muscle disease.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 94, doi. 10.1002/jmd2.12174

By:

Fernandes, Samuela A.;
Khan, Aleena A.;
Boggs, Tracy;
Bowling, Michael;
Austin, Stephanie;
Stefanescu, Mihaela;
Case, Laura;
Kishnani, Priya S.

Publication type:

Article

Normal reference ranges for urinary δ‐aminolevulinic acid and porphobilinogen levels.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 85, doi. 10.1002/jmd2.12173

By:

Agarwal, Sagar;
Habtemarium, Bahru;
Xu, Yuanxin;
Simon, Amy R.;
Kim, Jae B.;
Robbie, Gabriel J.

Publication type:

Article

Pregnancy outcome in women with Gaucher disease type 1 who had unplanned pregnancies during eliglustat clinical trials.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 76, doi. 10.1002/jmd2.12172

By:

Lukina, Elena;
Balwani, Manisha;
Belmatoug, Nadia;
Watman, Nora;
Hughes, Derralynn;
Gaemers, Sebastiaan J. M.;
Foster, Meredith C.;
Lewis, Grace;
Peterschmitt, M. Judith

Publication type:

Article

Two cases of carbonic anhydrase VA deficiency—An ultrarare metabolic decompensation syndrome presenting with hyperammonemia, lactic acidosis, ketonuria, and good clinical outcome.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 9, doi. 10.1002/jmd2.12171

By:

Marwaha, Ashish;
Ibrahim, Judy;
Rice, Taylor;
Hamwi, Nadia;
Rupar, Charles Anthony;
Cresswell, David;
Prasad, Chitra;
Schulze, Andreas

Publication type:

Article

Impact of trimethylaminuria on daily psychosocial functioning.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 67, doi. 10.1002/jmd2.12170

By:

Roddy, Daniel;
McCarthy, Philomena;
Nerney, Darragh;
Mulligan‐Rabbitt, Jennifer;
Smith, Edwin;
Treacy, Eileen P.

Publication type:

Article

Ketogenic diet in a patient with refractory status epilepticus due to POLG mutation.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 3, doi. 10.1002/jmd2.12169

By:

Koessler, Miriam;
Haberlandt, Edda;
Karall, Daniela;
Baumann, Matthias;
Höller, Alexander;
Scholl‐Bürgi, Sabine

Publication type:

Article

Is serum biotinidase enzyme activity a potential marker of perturbed glucose and lipid metabolism?

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 58, doi. 10.1002/jmd2.12168

By:

Forny, Patrick;
Burda, Patricie;
Bode, Peter;
Rohrbach, Marianne

Publication type:

Article

Genetic characterization of the Albanian Gaucher disease patient population.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 52, doi. 10.1002/jmd2.12167

By:

Cullufi, Paskal;
Tabaku, Mirela;
Velmishi, Virtut;
Gjikopulli, Agim;
Tomori, Sonila;
Dervishi, Ermira;
Tako, Aferdita;
Leubauer, Anika;
Westenberger, Ana;
Cozma, Claudia;
Beetz, Christian;
Bauer, Peter;
Wirth, Stefan;
Rolfs, Arndt

Publication type:

Article

Long‐term follow‐up with filter paper samples in patients with propionic acidemia.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 44, doi. 10.1002/jmd2.12166

By:

Stanescu, Sinziana;
Belanger‐Quintana, Amaya;
Fernández‐Felix, Borja Manuel;
Pérez‐Cerdá, Celia;
Merinero, Begoña;
Ruiz‐Sala, Pedro;
Arrieta, Francisco;
Martínez‐Pardo, Mercedes

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 1, doi. 10.1002/jmd2.12138
Publication type:: Article