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2024, Number 1

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Acta Pediatr Mex 2024; 45 (1)

Methylmalonic acidemia in a 3-month-old infant

Pasquel García-Velarde PM, Sánchez VI, Tavera RMG, Navarro RAC

Language: Spanish
References: 11
Page: 34-40
PDF size: 393.87 Kb.


Text Extraction

No abstract.


REFERENCES

  1. Rodríguez CB, Young-Sarmiento A, Ceballos-Vela C, López-Candiani C, et al. Acidemia metilmalónica: diagnósticotemprano y oportuno. Presentación de un caso. ActaPediatr Mex 2006; 27: 289-92.

  2. Vela AM, Ibarra GI, Olivares SZ, Méndez CST, et al. Característicasclínicas y bioquímicas de pacientes mexicanoscon acidemia metilmalónica. Bol Med Hosp Infant Mex2003; 60: 380-388.

  3. Matsui SM, Mahoney MJ, Rosenberg LE, The natural historyof the inherited methylmalonic acidemias. N Engl J Med1983; 308: 857-61.

  4. Carbajal-Rodríguez L, Rojas Maruri CM. Mujer adolescentecon acidemia metilmalónica con desenlace fatal. ActaPediatr Mex 2015; 36: 402-411.

  5. Santillán-Aguayo E, Revilla-Estivil N, Belmont-Martínez L,Fernández-Lainez C, et al. Tratamiento de urgencia de la acidemiametilmalónica. Acta Pediatr Mex 2012; 33 (1): 48-51.

  6. Mesa-Medina O, Ruiz-Pons M, García-Nieto V, León-GonzálezJ, et al. Aciduria metilmalónica con homocisteinuria:una causa muy poco frecuente de fallo renal en el períodoneonatal. Nefrología (Madrid) 2014; 34 (4): 539-540.

  7. Huemer M, Scholl-Bürgi S, Hadaya K. Three new cases oflate-onset cblC defect and review of the literature illustratingwhen to consider inborn errors of metabolism beyondinfancy. Orphanet J Rare Dis 2014; 9: 161.

  8. Carrillo-Carrasco N, Chandler RJ, Venditti CP. Combinedmethylmalonic acidemia and homocystinuria, cblC type.I. Clinical presentations, diagnosis and management. JInherited Metabolic Disease 2011; 35 (1): 91-102.

  9. Karava V, Kondou A, Dotis J, Sotiriou G, et al. HemolyticUremic Syndrome due to Methylmalonic Acidemia andHomocystinuria in an Infant: A Case Report and LiteratureReview. Children 2021; 8: 112.

  10. Vitoria-Miñana I, Dalmau-Serra J. Lesiones semejantes a lasacrodermatitis enteropática en la acidemia metilmalónicapor déficit de valina. An Pediatr 2010; 72 (1): 96-97.

  11. Howard R. Methylmalonic Acidemia, Cobalamin C Type,Presenting with cutaneous manifestations. Arch Dermatol1997; 133 (12): 1563.




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