Results 111 to 120 of about 2,810 (170)

[Diagnostic accuracy of tandem mass spectrometry combined with artificial intelligence for neonatal methylmalonic acidemia and associated factors]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Yan PY, Yu Y, Jiang S, Li HW, Wu HL.
europepmc   +1 more source

Retinal Changes in Early-Onset cblC Methylmalonic Acidemia Identified Through Expanded Newborn Screening: Highlights from a Case Study and Literature Review. [PDF]

Genes (Basel)
Michieletto P, Baldo F, Madonia M, Zupin L, Pensiero S, Bonati MT.   +5 more
europepmc   +1 more source

Caregiver's experiences with a mobile-based educational program and its impact on dietary treatment compliance of children with methylmalonic acidemia: an online survey. [PDF]

Orphanet J Rare Dis
Luo Q, Liu C, Lin L, Liu X, Chen H.
europepmc   +1 more source

[Application of percutaneous endoscopic gastrostomy in children with methylmalonic acidemia or propionic acidemia complicated by feeding difficulties: a case series of 7 patients]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Li WY, Zeng YM, Zhang JY, Lu XY, Wang WJ, Huang M, Qiu XY, Huang M, Wang YY, Chen YY, Dong GQ.   +10 more
europepmc   +1 more source

Long-term follow-up of Chinese patients with methylmalonic acidemia of the cblC and mut subtypes. [PDF]

Pediatr Res
Hao L, Ling S, Ding S, Qiu W, Zhang H, Zhang K, Chen T, Gu X, Liang L, Han L.   +9 more
europepmc   +1 more source

Propionic Acidemia, Methylmalonic Acidemia, and Cobalamin C Deficiency: Comparison of Untargeted Metabolomic Profiles. [PDF]

Metabolites
Sidorina A, Catesini G, Sacchetti E, Rizzo C, Dionisi-Vici C.   +4 more
europepmc   +1 more source

From Pancytopenia to Hyperleukocytosis, an Unexpected Presentation of Immune Reconstitution Inflammatory Syndrome in an Infant with Methylmalonic Acidemia. [PDF]

Children (Basel)
Sassine S, Remy A, Demaret T, Proulx F, Autmizguine J, Kakkar F, Tran TH, Laverdière C, Cunan ET, Maftei C, Mitchell G, Decaluwe H, Hindié J.   +12 more
europepmc   +1 more source

Associations between elevated uric acid and brain imaging abnormalities in pediatric patients with methylmalonic acidemia under 5 years of age. [PDF]

Sci Rep
Du M, Wu S, Chen Y, Yuan S, Dong S, Wang H, Wei H, Zhu C.   +7 more
europepmc   +1 more source

Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN. [PDF]

Kidney Int Rep
Servais A, Zacchia M, Dehoux L, Shroff R, Brassier A, Taurisano R, Kölker S, Oh J, Ariceta G, Stojanovic J, Hörster F, Strologo D, Spada M, Schiff M, Dionisi-Vici C.   +14 more
europepmc   +1 more source

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Methylmalonic acidemia

European Journal of Pediatrics, 1978
A patient presenting with severe metabolic acidosis accompanied by hyperglycinemia, hyperuricemia, hypoglycemia and hypertammonemia is described. Metabolic acidosis was found to be due to accumulated methylmalonic acid and did not respond to vitamin B12 administration.
I, Matsuda, T, Terashima, J, Yamamoto, I, Akaboshi, S, Shinozuka, S, Hattori, N, Nagata, Y, Oka   +7 more
openaire   +2 more sources