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Items: 1 to 20 of 22

1.
Hereditary Fructose Intolerance Mimicking a Biochemical Phenotype of Mucolipidosis: A Review of the Literature of Secondary Causes of Lysosomal Enzyme Activity Elevation in Serum
Carlos R. Ferreira, Joseph M. Devaney, Sean E. Hofherr, Laura M. Pollard, Kristina Cusmano-Ozog
Am J Med Genet A. Author manuscript; available in PMC 2023 Sep 18.
Published in final edited form as: Am J Med Genet A. 2017 Feb; 173(2): 501–509. Published online 2016 Oct 31. doi: 10.1002/ajmg.a.38023
PMCID:
PMC10506159
ArticlePDF–512K
2.
Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center
Ana Paula Pereira Scholz de Magalhães, Maira Graeff Burin, Carolina Fischinger Moura de Souza, Fernanda Hendges de Bitencourt, Fernanda Medeiros Sebastião, Thiago Oliveira Silva, Filippo Pinto e Vairo, Ida Vanessa Doederlein Schwartz
J Pediatr (Rio J) 2020 Nov-Dec; 96(6): 710–716. Published online 2019 Oct 31. doi: 10.1016/j.jped.2019.05.008
PMCID:
PMC9432258
ArticlePDF–702K
3.
Variation among DNA banking consent forms: points for clinicians to bank on
Samuel J. Huang, Laura M. Amendola, Darci L. Sternen
J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3
PMCID:
PMC9314484
ArticlePDF–776K
4.
Safety of vaccines administration in hereditary fructose intolerance
Arianna Maiorana, Antonella Sabia, Tiziana Corsetti, Carlo Dionisi-Vici
Orphanet J Rare Dis. 2020; 15: 274. Published online 2020 Oct 1. doi: 10.1186/s13023-020-01552-z
PMCID:
PMC7528578
ArticlePDF–838K
5.
Kidney and vascular function in adult patients with hereditary fructose intolerance
Nynke Simons, François-Guillaume Debray, Nicolaas C. Schaper, Edith J.M. Feskens, Carla E.M. Hollak, Judith A.P. Bons, Jörgen Bierau, Alfons J.H.M. Houben, Casper G. Schalkwijk, Coen D.A. Stehouwer, David Cassiman, Martijn C.G.J. Brouwers
Mol Genet Metab Rep. 2020 Jun; 23: 100600. Published online 2020 May 11. doi: 10.1016/j.ymgmr.2020.100600
PMCID:
PMC7225396
ArticlePDF–1.0M
6.
Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance
Fabiola Di Dato, Simona Spadarella, Maria Giovanna Puoti, Maria Grazia Caprio, Severo Pagliardini, Claudia Zuppaldi, Gianfranco Vallone, Simona Fecarotta, Gabriella Esposito, Raffaele Iorio, Giancarlo Parenti, Maria Immacolata Spagnuolo
Nutrients. 2019 Oct; 11(10): 2397. Published online 2019 Oct 7. doi: 10.3390/nu11102397
PMCID:
PMC6835214
ArticlePDF–1.0M
7.
Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm
Genet Med. Author manuscript; available in PMC 2015 Nov 1.
Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30
PMCID:
PMC4544753
ArticlePDF–960K
8.
Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India
Sunita Bijarnia-Mahay, Sireesha Movva, Neerja Gupta, Deepak Sharma, Ratna D. Puri, Udhaya Kotecha, Renu Saxena, Madhulika Kabra, Neelam Mohan, Ishwar C Verma
JIMD Rep. 2015; 19: 85–93. Published online 2015 Jan 18. doi: 10.1007/8904_2014_374
PMCID:
PMC4501232
ArticlePDF–402K
9.
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals
Gabriel A. Lazarin, Imran S. Haque, Shivani Nazareth, Kevin Iori, A. Scott Patterson, Jessica L. Jacobson, John R. Marshall, William K. Seltzer, Pasquale Patrizio, Eric A. Evans, Balaji S. Srinivasan
Genet Med. 2013 Mar; 15(3): 178–186. Published online 2012 Sep 13. doi: 10.1038/gim.2012.114
PMCID:
PMC3908551
ArticlePDF–411K
10.
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance
Lorenzo Ferri, Anna Caciotti, Catia Cavicchi, Miriam Rigoldi, Rossella Parini, Marina Caserta, Guido Chibbaro, Serena Gasperini, Elena Procopio, Maria Alice Donati, Renzo Guerrini, Amelia Morrone
JIMD Rep. 2012; 6: 31–37. Published online 2012 Feb 24. doi: 10.1007/8904_2012_125
PMCID:
PMC3565637
ArticlePDF–275K
11.
Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance
Giulia Paolella, Pasquale Pisano, Raffaele Albano, Lucio Cannaviello, Carolina Mauro, Gabriella Esposito, Pietro Vajro
Ital J Pediatr. 2012; 38: 64. Published online 2012 Oct 31. doi: 10.1186/1824-7288-38-64
PMCID:
PMC3502262
ArticlePDF–288K
12.
Two cases of hereditary fructose intolerance
N Ananth, G. S. Praveenkumar, K Aravind Rao, Vasanthi, Srinivas Kakkilaya
Indian J Clin Biochem. 2003 Jul; 18(2): 87–92. doi: 10.1007/BF02867372
PMCID:
PMC3453872
SummaryPDF–311K
13.
Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population
Erin M. Coffee, Laura Yerkes, Elizabeth P. Ewen, Tiffany Zee, Dean R. Tolan
J Inherit Metab Dis. Author manuscript; available in PMC 2010 Oct 14.
Published in final edited form as: J Inherit Metab Dis. 2010 Feb; 33(1): 33–42. Published online 2009 Dec 23. doi: 10.1007/s10545-009-9008-7
PMCID:
PMC2954661
ArticlePDF–130K
14.
Fructosaemia: An Inborn Error of Fructose Metabolism
B. Levin, V. G. Oberholzer, G. J. A. I. Snodgrass, L. Stimmler, Mary J. Wilmers
Arch Dis Child. 1963 Jun; 38(199): 220–230. doi: 10.1136/adc.38.199.220
PMCID:
PMC2019039
SummaryPage BrowsePDF–1.5M
15.
Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain
J Sanchez-Gutierrez, T Benlloch, M Leal, B Samper, I Garcia-Ripoll, J Feliu
J Med Genet. 2002 Sep; 39(9): e56. doi: 10.1136/jmg.39.9.e56
PMCID:
PMC1735221
SummaryPDF–253K
16.
Partial aldolase B gene deletions in hereditary fructose intolerance.
N C Cross, T M Cox
Am J Hum Genet. 1990 Jul; 47(1): 101–106.
PMCID:
PMC1683764
SummaryPage BrowsePDF–1003K
17.
Effect of administration of the fructose on the glycogenolytic action of glucagon. An investigation of the pathogeny of hereditary fructose intolerance
G. Van Den Berghe, L. Hue, H. G. Hers
Biochem J. 1973 Jun; 134(2): 637–645. doi: 10.1042/bj1340637
PMCID:
PMC1177852
SummaryPage BrowsePDF–1.2M
18.
Hereditary fructose intolerance.
M Ali, P Rellos, T M Cox
J Med Genet. 1998 May; 35(5): 353–365. doi: 10.1136/jmg.35.5.353
PMCID:
PMC1051308
SummaryPage BrowsePDF–3.2M
19.
Neonatal screening for hereditary fructose intolerance: frequency of the most common mutant aldolase B allele (A149P) in the British population.
C L James, P Rellos, M Ali, A F Heeley, T M Cox
J Med Genet. 1996 Oct; 33(10): 837–841. doi: 10.1136/jmg.33.10.837
PMCID:
PMC1050763
SummaryPage BrowsePDF–985K
20.
Iatrogenic deaths in hereditary fructose intolerance.
T M Cox
Arch Dis Child. 1993 Oct; 69(4): 413–415. doi: 10.1136/adc.69.4.413
PMCID:
PMC1029544
SummaryPage BrowsePDF–621K

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