Cargando…

Antenatal nephromegaly and propionic acidemia: a case report

BACKGROUND: Propionic acidemia (PA) is a rare but severe recessive autosomal disease, presenting with non specific signs in the first years of life. Prenatal diagnosis is invasive (amniocentesis) and limited to suspect cases. No screening test has been described, in particular no correlations betwee...

Descripción completa

Detalles Bibliográficos
Autores principales:	Bernheim, Ségolène, Deschênes, Georges, Schiff, Manuel, Cussenot, Isabelle, Niel, Olivier
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5372311/ https://www.ncbi.nlm.nih.gov/pubmed/28359305 http://dx.doi.org/10.1186/s12882-017-0535-4

Ejemplares similares

Functional neurologic disorders in an adult with propionic acidemia: a case report
por: Tarrada, Alexis, et al.
Publicado: (2021)

Anaesthetic considerations for liver transplantation in propionic acidemia
por: Rajakumar, Akila, et al.
Publicado: (2016)

The re‐occurrence of cardiomyopathy in propionic acidemia after liver transplantation
por: Berry, Gerard T., et al.
Publicado: (2020)

Impaired lipolysis in propionic acidemia: A new metabolic myopathy?
por: Storgaard, Jesper H., et al.
Publicado: (2020)

Secondary Hemophagocytosis in Propionic Acidemia
por: Kasapkara, Cigdem Seher, et al.
Publicado: (2015)

Prevalence of propionic acidemia in China
por: Zhang, Yixing, et al.
Publicado: (2023)

Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia
por: Yang, Qi, et al.
Publicado: (2020)

Anesthetic Management for Pediatric Liver Transplantation in a Patient With Propionic Acidemia: A Case Report
por: Rodriguez, Luis I., et al.
Publicado: (2021)

Successful Treatment of Bacillus cereus Bacteremia in a Patient with Propionic Acidemia
por: Aygun, Fatma Deniz, et al.
Publicado: (2016)

Propionic Acidemia with Novel Mutation Presenting as Recurrent Pancreatitis in a Child
por: Choe, Jae Young, et al.
Publicado: (2019)

Novel mutation causing propionic acidemia associated with unexplained autoimmune thyrotoxicosis
por: Sakrani, Nida Fatima, et al.
Publicado: (2021)

Intractable metabolic acidosis in a child with propionic acidemia undergoing liver transplantation -a case report-
por: Ryu, Jiyoung, et al.
Publicado: (2013)

Long-term continuous N-carbamylglutamate treatment in frequently decompensated propionic acidemia: a case report
por: Tummolo, Albina, et al.
Publicado: (2018)

Unique neuroradiological findings in propionic acidemia
por: Pfeifer, Cory M., et al.
Publicado: (2018)

Chronic Kidney Disease in Propionic Acidemia
por: Shchelochkov, Oleg A., et al.
Publicado: (2019)

Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy
por: Kruszka, Paul S., et al.
Publicado: (2014)

Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community()
por: Scott Schwoerer, Jessica, et al.
Publicado: (2016)

Carglumic Acid Contributes to a Favorable Clinical Course in a Case of Severe Propionic Acidemia
por: Kido, Jun, et al.
Publicado: (2020)

High prevalence of self‐reported autism spectrum disorder in the Propionic Acidemia Registry
por: Cotrina, Maria L., et al.
Publicado: (2019)

Assessing Gut Microbiota in an Infant with Congenital Propionic Acidemia before and after Probiotic Supplementation
por: Bordugo, Andrea, et al.
Publicado: (2021)

Ventricular Arrhythmias in a Patient With Propionic Acidemia
por: Della Rossa, Anthony A, et al.
Publicado: (2022)

Biomarkers for drug development in propionic and methylmalonic acidemias
por: Longo, Nicola, et al.
Publicado: (2022)

Natural history of propionic acidemia in the Amish population
por: Ehrenberg, Sarah, et al.
Publicado: (2022)

Activated phosphoinositide 3-kinase δ syndrome associated with nephromegaly, growth hormone deficiency, bronchiectasis: a case report
por: Craig, Megan, et al.
Publicado: (2022)

Acute Lymphoblastic Leukemia Presenting with Isolated Nephromegaly
por: Arora, N., et al.
Publicado: (2019)

Neuropsychological endpoints for clinical trials in methylmalonic acidemia and propionic acidemia: A pilot study
por: Chapman, Kimberly A., et al.
Publicado: (2023)

Long‐term follow‐up with filter paper samples in patients with propionic acidemia
por: Stanescu, Sinziana, et al.
Publicado: (2020)

Correction to: Functional neurologic disorders in an adult with propionic acidemia: a case report
por: Tarrada, Alexis, et al.
Publicado: (2022)

Central Venous Catheter-Related Bloodstream Infection with Kocuria kristinae in a Patient with Propionic Acidemia
por: Kimura, Masato, et al.
Publicado: (2017)

Case report: A unusual case of delayed propionic acidemia complicated with subdural hematoma
por: Jiang, Zongzhi, et al.
Publicado: (2022)

Dietary practices in propionic acidemia: A European survey
por: Daly, A., et al.
Publicado: (2017)

Whole-genome amplification/preimplantation genetic testing for propionic acidemia of successful pregnancy in an obligate carrier Mexican couple: A case report
por: Neumann, Adina, et al.
Publicado: (2021)

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
por: Baumgartner, Matthias R, et al.
Publicado: (2014)

Propionic Acidemia: Diagnosis and Neuroimaging Findings of This Neurometabolic Disorder
por: KARIMZADEH, Parvaneh, et al.
Publicado: (2014)

Clinical Course and Nutritional Management of Propionic and Methylmalonic Acidemias
por: Mobarak, Amira, et al.
Publicado: (2020)

Propionic and Methylmalonic Acidemias: Initial Clinical and Biochemical Presentation
por: Mobarak, Amira, et al.
Publicado: (2020)

Cardiac Complications of Propionic and Other Inherited Organic Acidemias
por: Park, Kyung Chan, et al.
Publicado: (2020)

Anesthetic Management of Children With Propionic Acidemia Undergoing Esophagogastroduodenoscopy
por: Alex, Gijo, et al.
Publicado: (2021)

Case Report: Novel Mutations in the PCCB Gene Causing Late-Onset Propionic Acidemia
por: Ji, Guang, et al.
Publicado: (2022)

Fetal urine biochemistry in antenatal Bartter syndrome: a case report
por: Rachid, Myriam L., et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_ka771p2ikofbqi5g2lh88usn1i