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Items: 7

1.

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

Cabezas OR, Flanagan SE, Stanescu H, García-Martínez E, Caswell R, Lango-Allen H, Antón-Gamero M, Argente J, Bussell AM, Brandli A, Cheshire C, Crowne E, Dumitriu S, Drynda R, Hamilton-Shield JP, Hayes W, Hofherr A, Iancu D, Issler N, Jefferies C, Jones P, Johnson M, Kesselheim A, Klootwijk E, Koettgen M, Lewis W, Martos JM, Mozere M, Norman J, Patel V, Parrish A, Pérez-Cerdá C, Pozo J, Rahman SA, Sebire N, Tekman M, Turnpenny PD, Hoff WV, Viering DHHM, Weedon MN, Wilson P, Guay-Woodford L, Kleta R, Hussain K, Ellard S, Bockenhauer D.

J Am Soc Nephrol. 2017 Aug;28(8):2529-2539. doi: 10.1681/ASN.2016121312. Epub 2017 Apr 3.

2.

Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation.

Kanabus M, Shahni R, Saldanha JW, Murphy E, Plagnol V, Hoff WV, Heales S, Rahman S.

J Inherit Metab Dis. 2015 Mar;38(2):211-9. doi: 10.1007/s10545-015-9813-0. Epub 2015 Jan 18.

PMID:
25595726
3.

Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment.

Quinlan C, Guegan K, Offiah A, Neill RO, Hiorns MP, Ellard S, Bockenhauer D, Hoff WV, Waters AM.

Pediatr Nephrol. 2012 Apr;27(4):581-8. doi: 10.1007/s00467-011-2046-z. Epub 2011 Nov 20.

PMID:
22101457
4.

SERUM HEPATITIS PRESENTING AS SUDDEN LOSS OF CONSCIOUSNESS.

BENNETT JR, HOFF WV.

Br Med J. 1965 Mar 13;1(5436):699-700. No abstract available.

5.

Hypopituitarism associated with intracranial aneurysms.

HOFF WV, HORNABROOK RW, MARKS V.

Br Med J. 1961 Nov 4;2(5261):1190-4. No abstract available.

6.

Studies on aldosterone secretion in man.

THORN GW, ROSS EJ, CRABBE J, HOFF WV.

Br Med J. 1957 Oct 26;2(5051):955-66. No abstract available.

7.

Dissecting aneurysm of the aorta; with reappearance of absent peripheral pulsation.

HOFF WV.

Guys Hosp Rep. 1954;103(1):80-6. No abstract available.

PMID:
13162272

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