Methylmalonic aciduria due to transcobalamin receptor defect [PDF]
, 2020 INSERM
openalex +1 more source
395 Severe neurological symptoms in a 7.5-month-old girl with megaloblastic anaemia and methylmalonic aciduria – case report [PDF]
, 2021 Agnieszka Słowińska, Patryk Domarecki
openalex +1 more source
A boy with methylmalonic aciduria - nine-year follow up and comparison with his healthy twin sister
, 2013 Lj. Cvitanović Šojat +5 more
openalex +2 more sources
LABRAD : Vol 39, Issue 2 - December 2013 [PDF]
, 2013 Diagnosis of Inborn Errors of Metabolism in Pakistan Inherited Metabolic Disorders-Presenting as Metabolic Emergencies Role of Biochemical Genetics Laboratary in Evaluation of IEM Amino Acid Chromatography for the Diagnosis of Inborn Error of Metabolism ...
Aga Khan University Hospital, Karachi
core +1 more source
, 2009 This issue of eMedRef provides information to clinicians on the pathophysiology, diagnosis, and therapeutics of ...
Michels, Thomas C. +2 more
core
BMC NephrologyBackground Combined methylmalonic acidemia (MMA) and hyperhomocysteinemia, cobalamin C (cblC) type, also named cblC deficiency is a rare autosomal recessive genetic metabolic disease.
Qiufa Hao +3 more
doaj +1 more source
Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria [PDF]
, 2010 Mei‐Ying Liu +8 more
openalex +1 more source
New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type
, 2017 Sandra Brasil +9 more
openalex +2 more sources
Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria. [PDF]
, 1992 A M Crane +3 more
openalex +1 more source
An expanding spectrum of complications in isolated methylmalonic aciduria. [PDF]
J Mother Child, 2020 Forny P, Grunewald S.
europepmc +1 more source