Results 201 to 210 of about 14,220 (236)

Amniotic fluid propionylcarnitine in methylmalonic aciduria

Journal of Inherited Metabolic Disease, 1987
SummaryAmniotic fluid samples from pregnancies complicated by foetal methylmalonic aciduria and from metabolically normal pregnancies were obtained at 16–18 weeks of gestation and analysed for total, free and acylcarnitine and individual carnitine esters.
D, Penn, E, Schmidt-Sommerfeld, C, Jakobs, L L, Bieber   +3 more
openaire   +2 more sources

Spondylocostal Dysostosis Associated with Methylmalonic Aciduria

Genetic Testing and Molecular Biomarkers, 2009
Spondylocostal dysostosis (SCD) is a genetic disorder characterized by vertebral segmentation and formation defects associated with changes of the ribs. Autosomal dominant and recessive modes of inheritance have been reported. Methylmalonic aciduria (MMA) is an inborn error of propionate or cobalamin metabolism.
Rachel S, Honjo, Erasmo B, Casella, Maria A, Vieira, Débora R, Bertola, Lilian M J, Albano, Luiz A, Oliveira, Shosuke, Nomachi, Junji, Hanai, Jean-François, Benoist, Sian, Ellard, Elizabeth, Young, Chong A, Kim   +11 more
openaire   +2 more sources

Long‐term outcome of methylmalonic aciduria after kidney, liver, or combined liver‐kidney transplantation: The French experience

Journal of Inherited Metabolic Disease, 2020
Organ transplantation is discussed in methylmalonic aciduria (MMA) for renal failure, and poor quality of life and neurological outcome. We retrospectively evaluated 23 French MMA patients after kidney (KT), liver‐kidney (LKT), and liver transplantation (
A. Brassier, P. Krug, F. Lacaille, C. Pontoizeau, S. Krid, S. Sissaoui, A. Servais, J. Arnoux, C. Legendre, M. Charbit, A. Scemla, C. Francoz, J. Benoist, M. Schiff, F. Mochel, G. Touati, P. Broué, A. Cano, M. Tardieu, Stefania Querciagrossa, D. Grevent, O. Boyer, L. Dupic, M. Oualha, M. Girard, Y. Aigrain, D. Debray, C. Capito, C. Ottolenghi, R. Salomon, C. Chardot, P. Lonlay   +31 more
semanticscholar   +1 more source

Erythroblastopenia Associated with Methylmalonic Aciduria

Neonatology, 1996
Various cytopenias, including neutropenia, thrombocytopenia and pancytopenia, have been reported in association with inborn errors of branched amino acid metabolism. We report here on a case of anemia associated with erythroblastopenia – that is less frequent in this context – in a neonate with methylmalonic aciduria.
F. Corazza, D. Blum, A. Clercx, Y. Mardens, P. Fondu   +4 more
openaire   +1 more source

Combined methylmalonic aciduria and homocystinuria

Journal of Pediatric Neurology, 2015
Combined methylmalonic aciduria and homocystinuria is a very rare disease caused by a defect in the synthesis of two cofactors in cobalamin dependent reactions, i.e. adenosylcobalamin and methylcobalamin, active forms of vitamin B12. Early onset disease consists of neurological, hematological and gastrointestinal abnormalities seen in the first year of
Ahmet Aydin, Gurkan Altun, Isa Ozyilmaz, Mine Ozdil, Safa Alhaj, Hasan Onal   +5 more
openaire   +1 more source

Hepatoblastoma in a patient with methylmalonic aciduria

American Journal of Medical Genetics Part A, 2015
Childhood malignant tumors and their treatment are not well described in the natural history of methylmalonic aciduria (MMA). Here we present a case of hepatoblastoma occurring in the native liver of a 19‐month‐old male with MMA. His tumor was unresectable at diagnosis and he received neoadjuvant chemotherapy with cisplatin, 5‐fluorouracil and ...
Randall, Chan, Leo, Mascarenhas, Richard G, Boles, Nanda, Kerkar, Yuri, Genyk, Rajkumar, Venkatramani   +5 more
openaire   +2 more sources

Methylmalonic Aciduria—A Newly Discovered Inborn Error

Annals of Internal Medicine, 1968
Excerpt The development of relatively simple methods during the last decade for the quantitative determination of organic acids in biological fluids threatens the practitioner with an inundation of...
L A, Barness, G, Morrow
openaire   +2 more sources

Methylmalonic aciduria in pregnancy: A case report

American Journal of Obstetrics and Gynecology, 1995
Methylmalonic aciduria is a rare metabolic disorder of amino acid metabolism that is characterized by accumulation of large amounts of methylmalonic acid in the blood and urine. To our knowledge this is the first case report of a patient with methylmalonic aciduria who carried a pregnancy to term; the outcome was favorable despite high levels of ...
E, Diss, J, Iams, N, Reed, D S, Roe, C, Roe   +4 more
openaire   +2 more sources

[A case of simultaneous haploinsufficiency of A20 and methylmalonic aciduria].

Zhonghua er ke za zhi = Chinese journal of pediatrics, 2023
L. Lin, H. Wang, S. Mei, Z. Li, Y. Cheng
semanticscholar   +1 more source

Methylmalonic Aciduria in the Newborn

New England Journal of Medicine, 1976
V E, Shih, J T, Coulombe, M, Maties, H L, Levy   +3 more
openaire   +2 more sources