Akman HO - Search Results

1

Adult polyglucosan body disease: a case report of a manifesting heterozygote.

Ubogu EE, Hong ST, Akman HO, Dimauro S, Katirji B, Preston DC, Shapiro BE. Ubogu EE, et al. Among authors: akman ho. Muscle Nerve. 2005 Nov;32(5):675-81. doi: 10.1002/mus.20384. Muscle Nerve. 2005. PMID: 16007674

2

Fatal infantile neuromuscular presentation of glycogen storage disease type IV.

Tay SK, Akman HO, Chung WK, Pike MG, Muntoni F, Hays AP, Shanske S, Valberg SJ, Mickelson JR, Tanji K, DiMauro S. Tay SK, et al. Among authors: akman ho. Neuromuscul Disord. 2004 Apr;14(4):253-60. doi: 10.1016/j.nmd.2003.12.006. Neuromuscul Disord. 2004. PMID: 15019703

3

Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation.

Quinzii CM, Kattah AG, Naini A, Akman HO, Mootha VK, DiMauro S, Hirano M. Quinzii CM, et al. Among authors: akman ho. Neurology. 2005 Feb 8;64(3):539-41. doi: 10.1212/01.WNL.0000150588.75281.58. Neurology. 2005. PMID: 15699391

4

Neonatal neuromuscular variant of glycogen storage disease type IV: histopathological findings leading to the diagnosis.

Konstantinidou AE, Anninos H, Gyftodimou Y, Petersen MB, Karadimas C, Fotopoulos S, Paraskevakou H, Akman HO, Dimauro S, Patsouris E. Konstantinidou AE, et al. Among authors: akman ho. Histopathology. 2006 Jun;48(7):878-80. doi: 10.1111/j.1365-2559.2006.02425.x. Histopathology. 2006. PMID: 16722943 No abstract available.

5

Prenatal diagnosis of glycogen storage disease type IV.

Akman HO, Karadimas C, Gyftodimou Y, Grigoriadou M, Kokotas H, Konstantinidou A, Anninos H, Patsouris E, Thaker HM, Kaplan JB, Besharat I, Hatzikonstantinou K, Fotopoulos S, Dimauro S, Petersen MB. Akman HO, et al. Prenat Diagn. 2006 Oct;26(10):951-5. doi: 10.1002/pd.1533. Prenat Diagn. 2006. PMID: 16874838

6

Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase.

Akman HO, Sampayo JN, Ross FA, Scott JW, Wilson G, Benson L, Bruno C, Shanske S, Hardie DG, Dimauro S. Akman HO, et al. Pediatr Res. 2007 Oct;62(4):499-504. doi: 10.1203/PDR.0b013e3181462b86. Pediatr Res. 2007. PMID: 17667862

7

Mitochondrial encephalomyopathy due to a novel mutation in the tRNAGlu of mitochondrial DNA.

Pancrudo J, Shanske S, Bonilla E, Daras M, Akman HO, Krishna S, Malkin E, DiMauro S. Pancrudo J, et al. Among authors: akman ho. J Child Neurol. 2007 Jul;22(7):858-62. doi: 10.1177/0883073807304199. J Child Neurol. 2007. PMID: 17715279

8

Neuromuscular forms of glycogen branching enzyme deficiency.

Bruno C, Cassandrini D, Assereto S, Akman HO, Minetti C, Di Mauro S. Bruno C, et al. Among authors: akman ho. Acta Myol. 2007 Jul;26(1):75-8. Acta Myol. 2007. PMID: 17915577 Free PMC article.

9

Juvenile Alpers disease.

Wiltshire E, Davidzon G, DiMauro S, Akman HO, Sadleir L, Haas L, Zuccollo J, McEwen A, Thorburn DR. Wiltshire E, et al. Among authors: akman ho. Arch Neurol. 2008 Jan;65(1):121-4. doi: 10.1001/archneurol.2007.14. Arch Neurol. 2008. PMID: 18195149

10

Placental involvement in glycogen storage disease type IV.

Konstantinidou AE, Anninos H, Dertinger S, Nonni A, Petersen M, Karadimas C, Havaki S, Marinos E, Akman HO, DiMauro S, Patsouris E. Konstantinidou AE, et al. Among authors: akman ho. Placenta. 2008 Apr;29(4):378-81. doi: 10.1016/j.placenta.2008.01.005. Epub 2008 Mar 4. Placenta. 2008. PMID: 18289670

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