Freeze HH - Search Results

1

Neurological aspects of human glycosylation disorders.

Freeze HH, Eklund EA, Ng BG, Patterson MC. Freeze HH, et al. 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.

2

Disorders in protein glycosylation and potential therapy: tip of an iceberg?

Freeze HH. Freeze HH. J Pediatr. 1998 Nov;133(5):593-600. doi: 10.1016/s0022-3476(98)70096-4. J Pediatr. 1998. PMID: 9821413 Review.

3

Human glycosylation disorders and sugar supplement therapy.

Freeze HH. Freeze HH. Biochem Biophys Res Commun. 1999 Feb 16;255(2):189-93. doi: 10.1006/bbrc.1998.9945. Biochem Biophys Res Commun. 1999. PMID: 10049684 Review.

4

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: freeze hh. J Pediatr. 1999 Dec;135(6):775-81. doi: 10.1016/s0022-3476(99)70103-4. J Pediatr. 1999. PMID: 10586187

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: freeze hh. 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

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. Among authors: freeze hh. Genet Med. 2001 Nov-Dec;3(6):393-8. doi: 10.1097/00125817-200111000-00003. Genet Med. 2001. PMID: 11715002 Free article.

8

Congenital disorders of glycosylation and the pediatric liver.

Freeze HH. Freeze HH. Semin Liver Dis. 2001 Nov;21(4):501-15. doi: 10.1055/s-2001-19031. Semin Liver Dis. 2001. PMID: 11745038 Review.

9

Update and perspectives on congenital disorders of glycosylation.

Freeze HH. Freeze HH. Glycobiology. 2001 Dec;11(12):129R-143R. Glycobiology. 2001. PMID: 11805072 Review.

10

Human disorders in N-glycosylation and animal models.

Freeze HH. Freeze HH. Biochim Biophys Acta. 2002 Dec 19;1573(3):388-93. doi: 10.1016/s0304-4165(02)00408-7. Biochim Biophys Acta. 2002. PMID: 12417423 Review.

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