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Items: 1 to 20 of 82

1.

Glutaric acidemia type II. Comparison of pathologic features in two infants.

Colevas AD, Edwards JL, Hruban RH, Mitchell GA, Valle D, Hutchins GM.

Arch Pathol Lab Med. 1988 Nov;112(11):1133-9.

PMID:
3178428
2.

Glutaric acidemia type II: neuroimaging and spectroscopy evidence for developmental encephalomyopathy.

Shevell MI, Didomenicantonio G, Sylvain M, Arnold DL, O'Gorman AM, Scriver CR.

Pediatr Neurol. 1995 May;12(4):350-3.

PMID:
7546009
3.

Glutaric acidemia type II: heterogeneity of clinical and biochemical phenotypes.

Loehr JP, Goodman SI, Frerman FE.

Pediatr Res. 1990 Mar;27(3):311-5.

PMID:
2320399
4.

Morphologic studies of the placenta and autopsy findings in neonatal-onset glutaric acidemia type II.

Slukvin II, Salamat MS, Chandra S.

Pediatr Dev Pathol. 2002 May-Jun;5(3):315-21.

PMID:
12007026
6.

Glutaric aciduria Type II.

Sweetman L, Nyhan WL, Tauner DA, Merritt TA, Singh M.

J Pediatr. 1980 Jun;96(6):1020-6.

PMID:
7373461
7.

Glutaric aciduria type II: review of the phenotype and report of an unusual glomerulopathy.

Wilson GN, de Chadarévian JP, Kaplan P, Loehr JP, Frerman FE, Goodman SI.

Am J Med Genet. 1989 Mar;32(3):395-401. Review.

PMID:
2658591
8.

Newly identified forms of electron transfer flavoprotein deficiency in two patients with glutaric aciduria type II.

Yamaguchi S, Orii T, Suzuki Y, Maeda K, Oshima M, Hashimoto T.

Pediatr Res. 1991 Jan;29(1):60-3.

PMID:
2000260
10.

Prenatal diagnosis and neonatal monitoring of a fetus with glutaric aciduria type II due to electron transfer flavoprotein (beta-subunit) deficiency.

Yamaguchi S, Shimizu N, Orii T, Fukao T, Suzuki Y, Maeda K, Hashimoto T, Previs SF, Rinaldo P.

Pediatr Res. 1991 Nov;30(5):439-43.

PMID:
1754299
11.

A new variant of glutaric aciduria type II: deficiency of beta-subunit of electron transfer flavoprotein.

Yamaguchi S, Orii T, Maeda K, Oshima M, Hashimoto T.

J Inherit Metab Dis. 1990;13(5):783-6. No abstract available.

PMID:
2246866
12.
13.

Recent progress in understanding glutaric acidemias.

Goodman SI, Frerman FE, Loehr JP.

Enzyme. 1987;38(1-4):76-9.

PMID:
3126045
14.

Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts.

Dubiel B, Dabrowski C, Wetts R, Tanaka K.

J Clin Invest. 1983 Nov;72(5):1543-52.

15.

Molecular study of electron transfer flavoprotein alpha-subunit deficiency in two Japanese children with different phenotypes of glutaric acidemia type II.

Purevjav E, Kimura M, Takusa Y, Ohura T, Tsuchiya M, Hara N, Fukao T, Yamaguchi S.

Eur J Clin Invest. 2002 Sep;32(9):707-12.

PMID:
12486872
16.

Glutaric aciduria type II: autopsy study of a case with electron-transferring flavoprotein dehydrogenase deficiency.

Kamiya M, Eimoto T, Kishimoto H, Tsudzuki T, Morishita H, Wada Y, Wakabayashi T, Hashimoto T, Goodman SI, Frerman FE, et al.

Pediatr Pathol. 1990;10(6):1007-19.

PMID:
2082330
17.
18.

Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys.

North KN, Hoppel CL, De Girolami U, Kozakewich HP, Korson MS.

J Pediatr. 1995 Sep;127(3):414-20. Review.

PMID:
7658272
19.

Glutaric acidemia type II. Phenotypic findings and ultrastructural studies of brain and kidney.

Harkin JC, Gill WL, Shapira E.

Arch Pathol Lab Med. 1986 May;110(5):399-401.

PMID:
3754423
20.

Acute pancreatitis in a patient with glutaric acidemia type II.

Coşkun T, Göğüş S, Akçören Z, Tokatli A, Ozalp I.

Turk J Pediatr. 1997 Jul-Sep;39(3):379-85.

PMID:
9339118

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