Works matching DE "ISOVALERIC acidemia"

Results: 13

Acute Pancreatitis with Rapid Clinical Improvement in a Child with Isovaleric Acidemia.

Published in:

Case Reports in Pediatrics, 2013, p. 1, doi. 10.1155/2013/721871

By:

Mantadakis, Elpis;
Chrysafis, Ioannis;
Tsouvala, Emmanouela;
Evangeliou, Athanassios;
Chatzimichael, Athanassios

Publication type:

Article

Concurrent class analysis identifies discriminatory variables from metabolomics data on isovaleric acidemia.

Published in:

Metabolomics, 2012, v. 8, p. 17, doi. 10.1007/s11306-011-0327-y

By:

Koekemoer, Gerhard;
Dercksen, Marli;
Allison, James;
Santana, Leonard;
Reinecke, Carolus

Publication type:

Article

Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study.

Published in:

2016

By:

Valayannopoulos, Vassili;
Baruteau, Julien;
Bueno Delgado, Maria;
Cano, Aline;
Couce, Maria L.;
Del Toro, Mireia;
Donati, Maria Alice;
Garcia-Cazorla, Angeles;
Gil-Ortega, David;
Gomez-de Quero, Pedro;
Guffon, Nathalie;
Hofstede, Floris C.;
Kalkan-Ucar, Sema;
Coker, Mahmut;
Lama-More, Rosa;
Martinez-Pardo Casanova, Mercedes;
Molina, Agustin;
Pichard, Samia;
Papadia, Francesco;
Rosello, Patricia

Publication type:

journal article

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia.

Published in:: Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 9, doi. 10.1186/1750-1172-7-9
Publication type:: Article

Isovaleric Acidemia Presenting as Diabetic Ketoacidosis: A Case Report.

Published in:

2014

By:

Kılıç, Mustafa;
Kaymaz, Nazan;
Özgül, Rıza Köksal

Publication type:

Case Study

Letter to the Editor.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2011, v. 24, n. 5/6, p. 399, doi. 10.1515/jpem.2011.046

By:

Pascarella, Antonia;
Rosa, Margherita;
Casa, Roberto della;
Andria, Generoso;
Parenti, Giancarlo

Publication type:

Article

Letter to the Editor.

Published in:

2011

By:

Pascarella, Antonia;
Rosa, Margherita;
Casa, Roberto della;
Andria, Generoso;
Parenti, Giancarlo

Publication type:

Letter to the Editor

Identification of 4″-isovaleryl-spiramycin III produced by Bacillus sp. fmbJ.

Published in:

Archives of Microbiology, 2014, v. 196, n. 2, p. 87, doi. 10.1007/s00203-013-0939-x

By:

Deng, Yang;
Ju, Yanjuan;
Lu, Zhaoxin;
Lu, Fengxia;
Yan, Dong;
Bie, Xiaomei

Publication type:

Article

A Rare Case of Inborn Error of Metabolism - Isovaleric Acidemia.

Published in:

2017

By:

Patel, Vardhan;
Yadav, Santosh;
Sahni, Mohit

Publication type:

Case Study

A Rare Cause of Recurrent Acute Pancreatitis in a Child: Isovaleric Acidemia with Novel Mutation.

Published in:

Pediatric Gastroenterology, Hepatology & Nutrition, 2017, v. 20, n. 1, p. 61, doi. 10.5223/pghn.2017.20.1.61

By:

Sag, Elif;
Cebi, Alper Han;
Kaya, Gulay;
Karaguzel, Gulay;
Cakir, Murat

Publication type:

Article

Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia.

Published in:

Tohoku Journal of Experimental Medicine, 2015, v. 236, n. 2, p. 103, doi. 10.1620/tjem.236.103

By:

Osamu Sakamoto;
Natsuko Arai-Ichinoi;
Hiroshi Mitsubuchi;
Yasutsugu Chinen;
Hidenori Haruna;
Hidehiko Maruyama;
Hidenori Sugawara;
Shigeo Kure

Publication type:

Article

Case of isovaleric acidaemia for cataract surgery: Anaesthetic implications.

Published in:

2016

By:

Kelkar, Kalpana Vinod;
Gadre, Vaijayanti Nitin

Publication type:

Case Study

A Case Report of Isovaleric Acidemia without Acidosis.

Published in:

Case Reports in Clinical Practice, 2024, v. 9, n. 1, p. 3

By:

Ordooei, Mahtab;
Fallah, Razieh;
Saeida-Ardekani, Maryam;
Soheilipour, Fahimeh;
Yavari, Mahdieh;
Mazaheri, Mahta

Publication type:

Article