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Items: 1 to 20 of 78

1.

Quiz page November 2010: a young woman with metabolic acidosis, hyperammonemia, and visual disturbance. Methylmalonic acidemia complicated with toxic amblyopia.

Su YJ, Chen JB, Chen TC, Chuang FR.

Am J Kidney Dis. 2010 Nov;56(5):A41-3. doi: 10.1053/j.ajkd.2010.04.009. No abstract available.

PMID:
20970019
2.
3.

Severe neutropenia in an infant with methylmalonic acidemia.

Guerra-Moreno J, Barrios N, Santiago-Borrero PJ.

Bol Asoc Med P R. 2003 Jan-Feb;95(1):17-20.

PMID:
12898746
4.

Heart failure in a patient with methylmalonic acidemia.

Azar MR, Shakiba M, Tafreshi RI, Rashed MS.

Mol Genet Metab. 2007 Sep-Oct;92(1-2):188. Epub 2007 Jun 25. No abstract available.

PMID:
17591451
5.

Methylmalonic acidemia presenting with an ichthyosis vulgaris-like aspect.

Boggio P, Machado MC, De Oliveira ZN, Sotto MN.

Pediatr Dermatol. 2007 Jul-Aug;24(4):455-6. No abstract available.

PMID:
17845195
6.

[Vitamin-B12-dependent methylmalonic acidemia in twins].

Karsten J, Hansen HG, Heuer R, Wulff UC, Kneer J.

Monatsschr Kinderheilkd. 1983 May;131(5):289-92. German.

PMID:
6877249
7.

Glutathione deficiency as a complication of methylmalonic acidemia: response to high doses of ascorbate.

Treacy E, Arbour L, Chessex P, Graham G, Kasprzak L, Casey K, Bell L, Mamer O, Scriver CR.

J Pediatr. 1996 Sep;129(3):445-8.

PMID:
8804337
8.

Growth hormone deficiency associated with methylmalonic acidemia.

Al-Owain M, Freehauf C, Bernstein L, Kappy M, Thomas J.

J Pediatr Endocrinol Metab. 2004 Feb;17(2):239-43.

PMID:
15055362
9.

Methylmalonic acidemia controlled with oral administration of vitamin B12.

Gordon BA, Carson RA.

Can Med Assoc J. 1976 Aug 7;115(3):233-6.

10.

Continuous hemodiafiltration in the treatment of hyperammonemia due to methylmalonic acidemia.

Chen CY, Tsai TC, Lee WJ, Chen HC.

Ren Fail. 2007;29(6):751-4.

PMID:
17763173
11.

Vitamin B12 status, methylmalonic acidemia, and bacterial overgrowth in short bowel syndrome.

Sentongo TA, Azzam R, Charrow J.

J Pediatr Gastroenterol Nutr. 2009 Apr;48(4):495-7. doi: 10.1097/MPG.0b013e31817f9e5b. No abstract available.

PMID:
19322060
12.

Methylmalonic acidemia.

Matsuda I, Terashima T, Yamamoto J, Akaboshi I, Shinozuka S, Hattori S, Nagata N, Oka Y.

Eur J Pediatr. 1978 Jul 3;128(3):181-6.

PMID:
27367
13.

Magnetic resonance imaging and diffusion-weighted imaging in methylmalonic acidemia.

Yeşildağ A, Ayata A, Baykal B, Koroglu M, Yildiz H, Oral B, Oktem F, Oyar O.

Acta Radiol. 2005 Feb;46(1):101-3.

PMID:
15841747
15.

[Methylmalonic acidemia: classification, diagnosis and therapy].

Cantani A.

Klin Padiatr. 1983 Nov-Dec;195(6):388-93. Review. German.

PMID:
6361367
16.

Dietary therapy in two patients with vitamin B12-unresponsive methylmalonic acidemia.

Satoh T, Narisawa K, Igarashi Y, Saitoh T, Hayasaka K, Ichinohazama Y, Onodera H, Tada K, Oohara K.

Eur J Pediatr. 1981 Feb;135(3):305-12.

PMID:
7227387
17.

Proximal renal tubular acidosis in methylmalonic acidemia.

Wolff JA, Strom C, Griswold W, Sweetman F, Kulovich S, Prodanos C, Nyhan WL.

J Neurogenet. 1985 Feb;2(1):31-9.

PMID:
4020528
18.

[Combined exchange transfusion and peritoneal dialysis treatment in a neonatal case of methylmalonic acidemia with severe hyperammonemia].

Sanjurjo P, Jaquotot C, Vallo A, Uriarte R, Prats JM, Ugarte M, Rodríguez Soriano J.

An Esp Pediatr. 1982 Oct;17(4):317-20. Spanish.

PMID:
6818879
19.

Occurrence of hyperammonemia in the course of 17 cases of methylmalonic acidemia.

Cathelineau L, Briand P, Ogier H, Charpentier C, Coude FX, Saudubray JM.

J Pediatr. 1981 Aug;99(2):279-80. No abstract available.

PMID:
7252694
20.

Kidney transplantation in a girl with methylmalonic acidemia and end stage renal failure.

Lubrano R, Scoppi P, Barsotti P, Travasso E, Scateni S, Cristaldi S, Castello MA.

Pediatr Nephrol. 2001 Nov;16(11):848-51.

PMID:
11685586

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