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Results: 1 to 20 of 180

1.

Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency.

de Koning TJ, Nikkels PG, Dorland L, Bekhof J, De Schrijver JE, van Hattum J, van Diggelen OP, Duran M, Berger R, Poll-The BT.

Virchows Arch. 2000 Jul;437(1):101-5.

PMID:
10963387
[PubMed - indexed for MEDLINE]
2.

Phosphomannose isomerase deficiency as a cause of congenital hepatic fibrosis and protein-losing enteropathy.

de Koning TJ, Dorland L, van Berge Henegouwen GP.

J Hepatol. 1999 Sep;31(3):557-60. No abstract available.

PMID:
10488719
[PubMed - indexed for MEDLINE]
3.

Gastrointestinal and other clinical manifestations in 17 children with congenital disorders of glycosylation type Ia, Ib, and Ic.

Damen G, de Klerk H, Huijmans J, den Hollander J, Sinaasappel M.

J Pediatr Gastroenterol Nutr. 2004 Mar;38(3):282-7.

PMID:
15076627
[PubMed - indexed for MEDLINE]
4.

A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency.

de Koning TJ, Dorland L, van Diggelen OP, Boonman AM, de Jong GJ, van Noort WL, De Schryver J, Duran M, van den Berg IE, Gerwig GJ, Berger R, Poll-The BT.

Biochem Biophys Res Commun. 1998 Apr 7;245(1):38-42.

PMID:
9535779
[PubMed - indexed for MEDLINE]
5.

Three cases of congenital hepatic fibrosis with Caroli's disease in three siblings.

Kim MH, Ryu JS, Yang SK, Lee SK, Kim HR, Joung YH, Lee YS, Min YI.

Korean J Intern Med. 1990 Jul;5(2):101-7.

PMID:
2098093
[PubMed - indexed for MEDLINE]
6.

Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency.

Harms HK, Zimmer KP, Kurnik K, Bertele-Harms RM, Weidinger S, Reiter K.

Acta Paediatr. 2002;91(10):1065-72.

PMID:
12434892
[PubMed - indexed for MEDLINE]
7.

Phosphomannoseisomerase deficiency as the cause of protein-losing enteropathy and congenital liver fibrosis.

Oren A, Houwen RH.

J Pediatr Gastroenterol Nutr. 1999 Aug;29(2):231-2. No abstract available.

PMID:
10435667
[PubMed - indexed for MEDLINE]
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.

Hum Mutat. 2000 Sep;16(3):247-52. Review.

PMID:
10980531
[PubMed - indexed for MEDLINE]
9.

Fine needle aspiration biopsy findings in congenital hepatic fibrosis. A case report.

Niemann TH, Ferguson DJ, Raab SS, Thomas PA.

Acta Cytol. 1997 Mar-Apr;41(2):529-32.

PMID:
9100793
[PubMed - indexed for MEDLINE]
10.

Carbohydrate-deficient glycoprotein syndrome 1b: a new answer to an old diagnostic dilemma.

Kelly DF, Boneh A, Pitsch S, Gold H, Fietz M, Nelson P, Oliver MR.

J Paediatr Child Health. 2001 Oct;37(5):510-2.

PMID:
11885720
[PubMed - indexed for MEDLINE]
11.

[Follow up in a case of congenital hepatic fibrosis (author's transl)].

Donhuijsen K, Leder LD.

Z Gastroenterol. 1978 Jun;16(6):387-94. German.

PMID:
676416
[PubMed - indexed for MEDLINE]
12.

The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib.

de Lonlay P, Seta N.

Biochim Biophys Acta. 2009 Sep;1792(9):841-3. doi: 10.1016/j.bbadis.2008.11.012. Epub 2008 Dec 6.

PMID:
19101627
[PubMed - indexed for MEDLINE]
Free Article
13.

Congenital hepatic fibrosis in 5 dogs.

Brown DL, Van Winkle T, Cecere T, Rushton S, Brachelente C, Cullen JM.

Vet Pathol. 2010 Jan;47(1):102-7. doi: 10.1177/0300985809353313.

PMID:
20080489
[PubMed - indexed for MEDLINE]
Free Article
14.

Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose.

de Lonlay P, Cuer M, Vuillaumier-Barrot S, Beaune G, Castelnau P, Kretz M, Durand G, Saudubray JM, Seta N.

J Pediatr. 1999 Sep;135(3):379-83.

PMID:
10484808
[PubMed - indexed for MEDLINE]
15.

Histological classification of liver fibrosis and its impact on the postoperative clinical course of patients with congenital dilatation of the bile duct.

Hasegawa T, Kimura T, Ihara Y, Fukuzawa M.

Surg Today. 2006;36(2):151-4.

PMID:
16440162
[PubMed - indexed for MEDLINE]
16.

MRI for evaluating congenital bile duct abnormalities.

Krausé D, Cercueil JP, Dranssart M, Cognet F, Piard F, Hillon P.

J Comput Assist Tomogr. 2002 Jul-Aug;26(4):541-52.

PMID:
12218818
[PubMed - indexed for MEDLINE]
17.

[Choledochus cyst: a case with dilatation of the intrahepatic bile ducts and congenital liver fibrosis].

Buts JP, Otte JB, Claus D, Van Craynest MP, De Meyer R.

Helv Paediatr Acta. 1980 Jul;35(3):289-95. French.

PMID:
7410115
[PubMed - indexed for MEDLINE]
18.

Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation.

Westphal V, Kjaergaard S, Davis JA, Peterson SM, Skovby F, Freeze HH.

Mol Genet Metab. 2001 May;73(1):77-85.

PMID:
11350186
[PubMed - indexed for MEDLINE]
19.

New diagnosis and treatment of congenital hepatic fibrosis.

Freeze HH.

J Pediatr Gastroenterol Nutr. 1999 Jul;29(1):104-6. No abstract available.

PMID:
10400117
[PubMed - indexed for MEDLINE]
20.

[Congenital cystic diseases of the intra and extrahepatic bile ducts].

Dhumeaux D.

Gastroenterol Clin Biol. 2005 Aug-Sep;29(8-9):878-82. Review. French.

PMID:
16294162
[PubMed - indexed for MEDLINE]
Free Article

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