Results 131 to 140 of about 3,232 (144)

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

Identification of a novel frameshift mutation (L345Sfs*15) in a Korean neonate with methylmalonic acidemia

, 2017
Young A Kim, Jiyong Kim, Yoo‐Mi Kim, Chong Kun Cheon   +3 more
openalex   +2 more sources

Methylmalonic Acidemia: An Unusual Cause of Chronic Renal Disease in Adults [PDF]

Kamel El Reshaid, Abdulrahman Al Kanderi
openalex   +1 more source

AB164. Methylmalonic acidemia/propionic acidemia in Taiwan.

, 2015
Tzu-Hung Chu, Yin‐Hsiu Chien, Hsiang‐Yu Lin, Hsuan-Chieh Liao, Huey-Jane Ho, Chinsu Liu, Chih‐Jou Lai, Chuan-Chi Chiang, Chia‐Feng Yang, Wuh‐Liang Hwu, Shuan‐Pei Lin, Dau‐Ming Niu   +11 more
openalex   +1 more source

Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation. [PDF]

JCI Insight
Manoli I, Sysol JR, Head PE, Epping MW, Gavrilova O, Crocker MK, Sloan JL, Koutsoukos SA, Wang C, Ktena YP, Mendelson S, Pass AR, Zerfas PM, Hoffmann V, Vernon HJ, Fletcher LA, Reynolds JC, Tsokos MG, Stratakis CA, Voss SD, Chen KY, Brown RJ, Hamosh A, Berry GT, Chen XS, Yanovski JA, Venditti CP.   +26 more
europepmc   +1 more source

Using metabolic abnormalities of carriers in the neonatal period to evaluate the pathogenicity of variants of uncertain significance in methylmalonic acidemia. [PDF]

Front Genet
Xiao D, Shi C, Zhang Y, Li S, Ye Y, Yuan G, Miu T, Ma H, Diao S, Su C, Li Z, Li H, Zhuang G, Wang Y, Lu F, Gu X, Zhou W, Xiao X, Huang W, Wei T, Hao H.   +20 more
europepmc   +1 more source

Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review. [PDF]

Orphanet J Rare Dis
Arhip L, Brox-Torrecilla N, Romero I, Motilla M, Serrano-Moreno C, Miguélez M, Cuerda C.   +6 more
europepmc   +1 more source

General Anesthesia for a Child With Methylmalonic Acidemia Undergoing Oral Care and Dental Treatment Before Kidney Transplantation. [PDF]

Anesth Prog
Hano K, Kato M, Miyajima R, Kameyama I, Oshima Y, Tsukamoto M, Yokoyama T.   +6 more
europepmc   +1 more source

Association of Methylmalonic Acidemia and Erythema Nodosum [PDF]

Iranian Journal of Medical Sciences, 2011
Zohre Karamizadeh, Setilla Dalili, Hamdollah, Gholam Hossein Amirhakimi   +3 more
doaj  

Concurrent combined methylmalonic acidemia and homocystinuria with down syndrome in a Chinese preschool Child: An in-depth case report and literature review. [PDF]

Heliyon
Dong R, Liu C, Liu Y, Zhang H, Liu G, Liu Y, Gai Z.   +6 more
europepmc   +1 more source