Freeze HH - Search Results

1

A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.

Westphal V, Kjaergaard S, Schollen E, Martens K, Grunewald S, Schwartz M, Matthijs G, Freeze HH. Westphal V, et al. Among authors: freeze hh. Hum Mol Genet. 2002 Mar 1;11(5):599-604. doi: 10.1093/hmg/11.5.599. Hum Mol Genet. 2002. PMID: 11875054

2

Oral ingestion of mannose elevates blood mannose levels: a first step toward a potential therapy for carbohydrate-deficient glycoprotein syndrome type I.

Alton G, Kjaergaard S, Etchison JR, Skovby F, Freeze HH. Alton G, et al. Among authors: freeze hh. Biochem Mol Med. 1997 Apr;60(2):127-33. doi: 10.1006/bmme.1997.2574. Biochem Mol Med. 1997. PMID: 9169093

3

Abnormal metabolism of mannose in families with carbohydrate-deficient glycoprotein syndrome type 1.

Panneerselvam K, Etchison JR, Skovby F, Freeze HH. Panneerselvam K, et al. Among authors: freeze hh. Biochem Mol Med. 1997 Aug;61(2):161-7. doi: 10.1006/bmme.1997.2599. Biochem Mol Med. 1997. PMID: 9259981

4

Failure of short-term mannose therapy of patients with carbohydrate-deficient glycoprotein syndrome type 1A.

Kjaergaard S, Kristiansson B, Stibler H, Freeze HH, Schwartz M, Martinsson T, Skovby F. Kjaergaard S, et al. Among authors: freeze hh. Acta Paediatr. 1998 Aug;87(8):884-8. doi: 10.1080/080352598750013680. Acta Paediatr. 1998. PMID: 9736238 Clinical Trial.

5

Molecular basis of carbohydrate-deficient glycoprotein syndromes type I with normal phosphomannomutase activity.

Freeze HH, Aebi M. Freeze HH, et al. Biochim Biophys Acta. 1999 Oct 8;1455(2-3):167-78. doi: 10.1016/s0925-4439(99)00072-1. Biochim Biophys Acta. 1999. PMID: 10571010 Free article. Review.

6

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.

7

Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic.

Westphal V, Schottstädt C, Marquardt T, Freeze HH. Westphal V, et al. Among authors: freeze hh. Mol Genet Metab. 2000 Jul;70(3):219-23. doi: 10.1006/mgme.2000.3017. Mol Genet Metab. 2000. PMID: 10924277

8

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.

9

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).

Matthijs G, Schollen E, Bjursell C, Erlandson A, Freeze H, Imtiaz F, Kjaergaard S, Martinsson T, Schwartz M, Seta N, Vuillaumier-Barrot S, Westphal V, Winchester B. Matthijs G, et al. Hum Mutat. 2000 Nov;16(5):386-94. doi: 10.1002/1098-1004(200011)16:5<386::AID-HUMU2>3.0.CO;2-Y. Hum Mutat. 2000. PMID: 11058895

10

Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation.

Westphal V, Murch S, Kim S, Srikrishna G, Winchester B, Day R, Freeze HH. Westphal V, et al. Among authors: freeze hh. Am J Pathol. 2000 Dec;157(6):1917-25. doi: 10.1016/S0002-9440(10)64830-4. Am J Pathol. 2000. PMID: 11106564 Free PMC article.

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