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Case report

First published 2005-2

Magnetic resonance imaging and diffusion‐weighted imaging in methylmalonic acidemia

A. Yeşildağ, A. Ayata, B. Baykal [...]

Acta Radiologica

Free access

Research article

First published 2017-6

Quantification of 2-methylcitric acid in dried blood spots improves newborn screening for propionic and methylmalonic acidemias

Osama Y Al-Dirbashi, Nathan McIntosh, Pranesh Chakraborty

Journal of Medical Screening

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Review article

First published 2019-10

Gene Therapy for Methylmalonic Acidemia: Past,Present,and Future

Randy J. Chandler, Charles P. Venditti

Human Gene Therapy

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Research article

First published 2010-09

Liver-Directed Recombinant Adeno-Associated Viral Gene Delivery Rescues a Lethal Mouse Model of Methylmalonic Acidemia and Provides Long-Term Phenotypic Correction

Nuria Carrillo-Carrasco, Randy J. Chandler, Suma Chandrasekaran [...]

Human Gene Therapy

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Research article

First published 2008-01

Adenovirus-Mediated Gene Delivery Rescues a Neonatal Lethal Murine Model of mut 0 Methylmalonic Acidemia

Randy J. Chandler, Charles P. Venditti

Human Gene Therapy

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Research article

First published 2016-05

Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia

Elizabeth A. Harrington, Jennifer L. Sloan, Irini Manoli [...]

Human Gene Therapy

Open access

Research article

First published 2018-12-20

Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium

Nicholas Ah Mew, Avital Cnaan, Robert McCarter [...]

Translational Science of Rare Diseases

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Research article

First published 2014-8

Methylmalonic acidemia presenting as persistent pulmonary hypertension of the newborn

R. Agarwal, G.L. Feldman, J. Poulik [...]

Journal of Neonatal-Perinatal Medicine

Open access

Letter

First published 2023-5

Methylmalonic Acidemia Masquerading as Rett Syndrome: An Atypical “Neurodegenerative” Variant?

Riddhee Jayaram, Aaditya Suresh, Mauli Rastogi [...]

Indian Journal of Psychological Medicine

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Research article

First published 2022-6

A Study of Sick Newborn for Inborn Error of Metabolism by Tandem Mass Spectrometry

Rahul Bhautara, Kamlesh Kumar Agarwal, Ashok Gupta [...]

Journal of Neonatology

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