Cargando…

Metabolic and genetic assessments interpret unexplained aggressive pulmonary hypertension induced by methylmalonic acidemia: A case report

BACKGROUND: Pulmonary hypertension (PH) causes significant morbidity and mortality in diverse childhood diseases. However, limited information has been reported to obtain a good understanding of pediatric PH. Gaps exist between genome sequencing and metabolic assessments and lead to misinterpretatio...

Descripción completa

Detalles Bibliográficos
Autores principales:	Liao, Hong-Yu, Shi, Xiao-Qing, Li, Yi-Fei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Baishideng Publishing Group Inc 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7103965/ https://www.ncbi.nlm.nih.gov/pubmed/32258084 http://dx.doi.org/10.12998/wjcc.v8.i6.1137

Ejemplares similares

Methylmalonic acidemia: Neurodevelopment and neuroimaging
por: Chen, Tao, et al.
Publicado: (2023)

Association of Methylmalonic Acidemia and Erythema Nodosum
por: Karamizadeh, Zohre, et al.
Publicado: (2011)

The Value of Liver Transplantation for Methylmalonic Acidemia
por: Jiang, Yi-Zhou, et al.
Publicado: (2019)

Pulmonary embolism in a child with combined methylmalonic acidemia and homocystinuria
por: Chen, Lanqin, et al.
Publicado: (2018)

Persistent pulmonary hypertension of the newborn due to methylmalonic acidemia: a case report and review of the literature
por: Hemmati, Fariba, et al.
Publicado: (2023)

Segmental uniparental disomy of chromosome 4 in a patient with methylmalonic acidemia
por: Chen, Min, et al.
Publicado: (2019)

Renal Growth in Isolated Methylmalonic Acidemia (MMA)
por: Kruszka, Paul S., et al.
Publicado: (2013)

Methylmalonic acidemia and diabetic ketoacidosis: An unusual association
por: Kumar, Suresh
Publicado: (2015)

Methylmalonic Acidemia with Novel MUT Gene Mutations
por: Panigrahi, Inusha, et al.
Publicado: (2017)

Corrigendum: The Value of Liver Transplantation for Methylmalonic Acidemia
por: Jiang, Yi-Zhou, et al.
Publicado: (2020)

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

Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle
por: Chandler, Randy J, et al.
Publicado: (2007)

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

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

Atypical imaging findings in the setting of methylmalonic acidemia in an infant
por: Chang, Warren, et al.
Publicado: (2015)

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)

Mitochondrial disease, mitophagy, and cellular distress in methylmalonic acidemia
por: Luciani, Alessandro, et al.
Publicado: (2021)

Multimodal MR imaging in acute exacerbation of methylmalonic acidemia
por: Saito, Riho, et al.
Publicado: (2023)

Serum differential proteomic profiling of patients with isolated methylmalonic acidemia by iTRAQ
por: Li, Sitao, et al.
Publicado: (2022)

Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia
por: Peng, Gang, et al.
Publicado: (2018)

Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia
por: An, Ding, et al.
Publicado: (2017)

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: Isolated methylmalonic acidemias (MMA)
por: Manoli, Irini, et al.
Publicado: (2015)

Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia
por: Gu, Wei, et al.
Publicado: (2014)

Methylmalonic acidemia mimicking diabetic ketoacidosis and septic shock in infants
por: Saini, Navdeep, et al.
Publicado: (2015)

Long-term renal outcome in methylmalonic acidemia in adolescents and adults
por: Dao, Myriam, et al.
Publicado: (2021)

Efficacy of Living Donor Liver Transplantation in Patients with Methylmalonic Acidemia
por: Jang, Jae Guk, et al.
Publicado: (2021)

In vivo genome editing at the albumin locus to treat methylmalonic acidemia
por: Schneller, Jessica L., et al.
Publicado: (2021)

Methylmalonic Acidemia Masquerading as Rett Syndrome: An Atypical “Neurodegenerative” Variant?
por: Jayaram, Riddhee, et al.
Publicado: (2023)

Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach
por: Haijes, H. A., et al.
Publicado: (2020)

Methylmalonic and propionic acidemia among hospitalized pediatric patients: a nationwide report
por: Jiang, Yi-Zhou, et al.
Publicado: (2019)

Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type
por: Girisha, Katta Mohan, et al.
Publicado: (2012)

Affective Disorder as the First Manifestation of Methylmalonic Acidemia: A Case Report
por: Sheikhmoonesi, Fatemeh, et al.
Publicado: (2013)

Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newborns
por: Peng, Gang, et al.
Publicado: (2018)

Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia
por: Zhang, Chuan, et al.
Publicado: (2020)

Anesthetic management of a patient with methylmalonic acidemia: a case report
por: Uemura, Yuta, et al.
Publicado: (2018)

Ketamine and dexmedetomidine sedation for brain magnetic resonance imaging in methylmalonic acidemia
por: Srinivasa, Navyashree Krishnashastry, et al.
Publicado: (2021)

Dandy-Walker malformation in methylmalonic acidemia: a rare case report
por: Liu, Jingwei, et al.
Publicado: (2021)

Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations
por: Held, Patrice K., et al.
Publicado: (2022)

Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia
por: ŞEKER YILMAZ, Berna, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_5ouk2bc7tmrhsq9k51rbthjf4o