E-LIB Suche - Ergebnisse für: Bernardini, Isa

1

Cystinosis: renal glomerular and renal tubular function in ..:

Nesterova, Galina ; Williams, Caitlyn ; Bernardini, Isa.
Pediatric Nephrology. 30 (2014) 6 - p. 945-951 , 2014

2

Characteristics of Congenital Hepatic Fibrosis in a Large C..:

Gunay–Aygun, Meral ; Font–Montgomery, Esperanza ; Lukose, Linda...
Gastroenterology. 144 (2013) 1 - p. 112-121.e2 , 2013

Link: https://doi.org/10.1053/..

3

A 3-year randomized therapeutic trial of nitisinone in alka..:

Introne, Wendy J. ; Perry, Monique B. ; Troendle, James...
Molecular Genetics and Metabolism. 103 (2011) 4 - p. 307-314 , 2011

Link: https://doi.org/10.1016/..

4

Pirfenidone for the treatment of Hermansky–Pudlak syndrome ..:

O'Brien, Kevin ; Troendle, James ; Gochuico, Bernadette R....
Molecular Genetics and Metabolism. 103 (2011) 2 - p. 128-134 , 2011

Link: https://doi.org/10.1016/..

5

PKHD1 sequence variations in 78 children and adults with au..:

Gunay-Aygun, Meral ; Tuchman, Maya ; Font-Montgomery, Esperanza...
Molecular Genetics and Metabolism. 99 (2010) 2 - p. 160-173 , 2010

Link: https://doi.org/10.1016/..

6

Fibrocystic disease of liver and pancreas; under‐recognized..:

Chetty‐John, Shilpa ; Piwnica‐Worms, Katie ; Bryant, Joy...
American Journal of Medical Genetics Part A. 152A (2010) 10 - p. 2640-2645 , 2010

Link: https://doi.org/10.1002/..

7

Seeking the biochemical basis of type III 3-methylglutaconi..:

Pei, Wuhong ; Bernardini, Isa ; Wassif, Christopher...
Developmental Biology. 319 (2008) 2 - p. 562 , 2008

Link: https://doi.org/10.1016/..

8

Use of nitisinone in patients with alkaptonuria:

Suwannarat, Pim ; O'Brien, Kevin ; Perry, Monique B....
Metabolism. 54 (2005) 6 - p. 719-728 , 2005

Link: https://doi.org/10.1016/..

9

Clinical, biochemical, and molecular diagnosis of a free si..:

Kleta, Robert ; Morse, Richard P ; Orvisky, Eduard...
Molecular Genetics and Metabolism. 82 (2004) 2 - p. 137-143 , 2004

Link: https://doi.org/10.1016/..

10

Revised Sections F7.5 (Quantitative Amino Acid Analysis) an..:

Grier, Robert E. ; Gahl, William A. ; Cowan, Tina...
Genetics in Medicine. 6 (2004) 1 - p. 66-68 , 2004

Link: https://doi.org/10.1097/..

11

Long-term follow-up of well-treated nephropathic cystinosis..:

Kleta, Robert ; Bernardini, Isa ; Ueda, Masako...
The Journal of Pediatrics. 145 (2004) 4 - p. 555-560 , 2004

Link: https://doi.org/10.1016/..

12

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorde:

Kleta, Robert ; Romeo, Elisa ; Ristic, Zorica...
Nature Genetics. 36 (2004) 9 - p. 999-1002 , 2004

Link: https://doi.org/10.1038/..

13

Minocycline-induced hyperpigmentation masquerading as alkap..:

Suwannarat, Pim ; Phornphutkul, Chanika ; Bernardini, Isa..
Arthritis & Rheumatism. 50 (2004) 11 - p. 3698-3701 , 2004

Link: https://doi.org/10.1002/..

14

Exacerbation of the ochronosis of alkaptonuria due to renal..:

Introne, Wendy J ; Phornphutkul, Chanika ; Bernardini, Isa...
Molecular Genetics and Metabolism. 77 (2002) 1-2 - p. 136-142 , 2002

Link: https://doi.org/10.1016/..

15

CTNS Mutations in African American Patients with Cystinosis:

Kleta, Robert ; Anikster, Yair ; Lucero, Cynthia...
Molecular Genetics and Metabolism. 74 (2001) 3 - p. 332-337 , 2001

Link: https://doi.org/10.1006/..