CLINICAL CASE OF METHYLMALONIC ACIDEMIA by Elena Anatolyevna Tkachuk, Darya Mikhailovna Barykova, Yuliya Sergeevna Livadarova, Igor Zhanovich Seminsky, Tatyana Alexandrovna Astakhova, Elena Gennadievna Osipova, Yuliya Viktorovna Mikhelsone, Tatyana Yuryevna Dorofeeva, Nikolay Vasilyevich Syrkin, Maria Igorevna Krasnova, Anna Viktorovna Rudakova, Daria Yuryevna Alexandrova

“…The paper describes a clinical case of methylmalonic acidemia in a newborn premature baby with a aggravated genealogical and obstetric history. …”
Get full text

Methylmalonic acidemia with emergency hypertension by Bahareh Yaghmaei, Parastoo Rostami, Farnaz Najmi Varzaneh, Behdad Gharib, Behnaz Bazargani, Nima Rezaei

Get full text

Methylmalonic acidemia: Neurodevelopment and neuroimaging by Tao Chen, Yian Gao, Shengdong Zhang, Yuanyuan Wang, Chaofan Sui, Linfeng Yang

Subjects: “…methylmalonic acidemia…”
Get full text

Methylmalonic acidemia in prenatal diagnosis by B.F. Zhou, C.X. Duan, D.L. Tang

“…Objective: The objective of this study was to report the prenatal diagnosis for methylmalonic acidemia. Materials and Methods: Isolated methylmalonic acidemia was diagnosed by analyzing organic acids in the blood and urine. …”
Get full text

Methylmalonic acidemia with emergency hypertension by Bahareh Yaghmaei, Parastoo Rostami, Farnaz Najmi Varzaneh, Behdad Gharib, Behnaz Bazargani, Nima Rezaei

Get full text

Association of Methylmalonic Acidemia and Erythema Nodosum by Zohre Karamizadeh, Setilla Dalili, Hamdollah, Gholam Hossein Amirhakimi

Get full text

The Value of Liver Transplantation for Methylmalonic Acidemia by Yi-Zhou Jiang, Yi-Zhou Jiang, Li-Ying Sun, Li-Ying Sun, Li-Ying Sun

Subjects: “…methylmalonic acidemia…”
Get full text

Methylmalonic Acidemia Diagnosis by Laboratory Methods by Fatemeh Keyfi, Saeed Talebi, Abdol-Reza Varasteh

Subjects: Get full text

Corrigendum: The Value of Liver Transplantation for Methylmalonic Acidemia by Yi-Zhou Jiang, Yi-Zhou Jiang, Li-Ying Sun, Li-Ying Sun, Li-Ying Sun

Subjects: “…methylmalonic acidemia…”
Get full text

A Methylmalonic Acidemia Case Presenting with Acrodermatitis Enteropathica by hesaneh izadyar, Peyman Eshraghi

Subjects: Get full text

Multimodal MR imaging in acute exacerbation of methylmalonic acidemia by Riho Saito, MD, Yuka Murofushi, MD, Sho Kimura, MD, Kumi Yasukawa, MD, PhD, Kei Murayama, MD, PhD, Jun-ichi Takanashi, MD, PhD

Subjects: “…Methylmalonic acidemia (MMA)…”
Get full text

A Methylmalonic Acidemia Case Presenting with Acrodermatitis Enteropathica by hesaneh izadyar, Peyman Eshraghi

Subjects: Get full text

Methylmalonic Acidemia- A Rare Inborn Error of Metabolism by Charusheela Sujit Korday, Rahul Ramnath Holkar, Shruti Sudhir Jadhav, Maaz Ahmed, Sushma Malik

“…The methylmalonic acidemias (MMA) are a heterogeneous group of autosomal recessive inborn errors of organic acid metabolism. …”
Get full text

Methylmalonic Acidemia Masquerading as Rett Syndrome: An Atypical “Neurodegenerative” Variant? by Riddhee Jayaram, Aaditya Suresh, Mauli Rastogi, Nishant Goyal

Get full text

In vivo genome editing at the albumin locus to treat methylmalonic acidemia by Jessica L. Schneller, Ciaran M. Lee, Leah E. Venturoni, Randy J. Chandler, Ang Li, Sangho Myung, Thomas J. Cradick, Ayrea E. Hurley, William R. Lagor, Gang Bao, Charles P. Venditti

Subjects: Get full text

Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia by Ding An, Jessica L. Schneller, Andrea Frassetto, Shi Liang, Xuling Zhu, Ji-Sun Park, Matt Theisen, Sue-Jean Hong, Jenny Zhou, Raj Rajendran, Becca Levy, Rebecca Howell, Gilles Besin, Vladimir Presnyak, Staci Sabnis, Kerry E. Murphy-Benenato, E. Sathyajith Kumarasinghe, Timothy Salerno, Cosmin Mihai, Christine M. Lukacs, Randy J. Chandler, Lin T. Guey, Charles P. Venditti, Paolo G.V. Martini

“…Summary: Isolated methylmalonic acidemia/aciduria (MMA) is a devastating metabolic disorder with poor outcomes despite current medical treatments. …”
Get full text

The Effectiveness of Parenteral Hydroxylcobalamin on Urine Mma in Children with Methylmalonic Acidemia by Afsane Nazari, Sepideh Bagheri, Zahra Abbasi Shaye, sara shirdelzade, Nafiseh Pourbadakhshan, peyman eshraghi

“…Background: Methylmalonic acidemia is a rare autosomal recessive disease in which there is a deficiency of intracellular cobalamin. …”
Get full text

Long-term renal outcome in methylmalonic acidemia in adolescents and adults by Myriam Dao, Jean-Baptiste Arnoux, Frank Bienaimé, Anaïs Brassier, François Brazier, Jean-François Benoist, Clément Pontoizeau, Chris Ottolenghi, Pauline Krug, Olivia Boyer, Pascale de Lonlay, Aude Servais

Subjects: “…Methylmalonic acidemia…”
Get full text

Development and Validation of a GC-FID Method for Diagnosis of Methylmalonic Acidemia by Fatemeh Keyfi, Abdolreza Varasteh

Subjects: Get full text

Adult methylmalonic acidemia presented as neuromyelitis optica: one case report by Sheng-de LI, Jing YUAN, Peng LIU, Li-ying CUI

“…The elevated level of plasm homocysteine [30.79 mmol/L (5-20 mmol/L)] and urine methylmalonic acid [0.40 mmol/L (0.001 mmol/L)] ascertained the diagnosis of methylmalonic acidemia. The patient was given oral treatment of folate 5 mg (3 times a day, 13 days) and levocarnitine 1 g (3 times a day, 8 days) and intramuscular injection of mecobalamine 1mg (once a day, 4 days) or 0.50 mg (once a day, 8 days) and adenosylcobalamine 0.50 mg (once a day, 8 days). …”
Get full text