Patterson MC - Search Results

1

Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome.

Babovic-Vuksanovic D, Patterson MC, Schwenk WF, O'Brien JF, Vockley J, Freeze HH, Mehta DP, Michels VV. Babovic-Vuksanovic D, et al. Among authors: patterson mc. J Pediatr. 1999 Dec;135(6):775-81. doi: 10.1016/s0022-3476(99)70103-4. J Pediatr. 1999. PMID: 10586187

2

Severe Hajdu-Cheney syndrome with upper airway obstruction.

Crifasi PA, Patterson MC, Bonde D, Michels VV. Crifasi PA, et al. Among authors: patterson mc. Am J Med Genet. 1997 Jun 13;70(3):261-6. Am J Med Genet. 1997. PMID: 9188663 Review.

3

Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion.

Babovic-Vuksanovic D, Snow K, Patterson MC, Michels VV. Babovic-Vuksanovic D, et al. Among authors: patterson mc. Am J Med Genet. 1998 Oct 12;79(5):383-7. Am J Med Genet. 1998. PMID: 9779806

4

Broad screening test for sphingolipid-storage diseases.

Chen CS, Patterson MC, Wheatley CL, O'Brien JF, Pagano RE. Chen CS, et al. Among authors: patterson mc. Lancet. 1999 Sep 11;354(9182):901-5. doi: 10.1016/S0140-6736(98)10034-X. Lancet. 1999. PMID: 10489949

5

Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie).

Kim S, Westphal V, Srikrishna G, Mehta DP, Peterson S, Filiano J, Karnes PS, Patterson MC, Freeze HH. Kim S, et al. Among authors: patterson mc. J Clin Invest. 2000 Jan;105(2):191-8. doi: 10.1172/JCI7302. J Clin Invest. 2000. PMID: 10642597 Free PMC article.

6

Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).

Schollen E, Dorland L, de Koning TJ, Van Diggelen OP, Huijmans JG, Marquardt T, Babovic-Vuksanovic D, Patterson M, Imtiaz F, Winchester B, Adamowicz M, Pronicka E, Freeze H, Matthijs G. Schollen E, et al. Hum Mutat. 2000 Sep;16(3):247-52. doi: 10.1002/1098-1004(200009)16:3<247::AID-HUMU7>3.0.CO;2-A. Hum Mutat. 2000. PMID: 10980531 Review.

7

Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.

Sun X, Marks DL, Park WD, Wheatley CL, Puri V, O'Brien JF, Kraft DL, Lundquist PA, Patterson MC, Pagano RE, Snow K. Sun X, et al. Among authors: patterson mc. Am J Hum Genet. 2001 Jun;68(6):1361-72. doi: 10.1086/320599. Epub 2001 May 9. Am J Hum Genet. 2001. PMID: 11349231 Free PMC article.

8

Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.

Westphal V, Peterson S, Patterson M, Tournay A, Blumenthal A, Treacy EP, Freeze HH. Westphal V, et al. Genet Med. 2001 Nov-Dec;3(6):393-8. doi: 10.1097/00125817-200111000-00003. Genet Med. 2001. PMID: 11715002 Free article.

9

Neurology of inherited glycosylation disorders.

Freeze HH, Eklund EA, Ng BG, Patterson MC. Freeze HH, et al. Among authors: patterson mc. Lancet Neurol. 2012 May;11(5):453-66. doi: 10.1016/S1474-4422(12)70040-6. Lancet Neurol. 2012. PMID: 22516080 Free PMC article.

10

Neurological aspects of human glycosylation disorders.

Freeze HH, Eklund EA, Ng BG, Patterson MC. Freeze HH, et al. Among authors: patterson mc. Annu Rev Neurosci. 2015 Jul 8;38:105-25. doi: 10.1146/annurev-neuro-071714-034019. Epub 2015 Apr 2. Annu Rev Neurosci. 2015. PMID: 25840006 Free PMC article. Review.

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