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Items: 1 to 20 of 166

1.
COVID-19 and Hartnup disease: an affair of intestinal amino acid malabsorption
Enzo Nisoli, Saverio Cinti, Alessandra Valerio
Eat Weight Disord. 2021; 26(5): 1647–1651. Published online 2020 Jul 20. doi: 10.1007/s40519-020-00963-y
PMCID:
PMC7369504
ArticlePDF–752K
2.
Severe persistent unremitting dermatitis, chronic diarrhea and hypoalbuminemia in a child; Hartnup disease in setting of celiac disease
Thomas Ciecierega, Imad Dweikat, Mohammad Awar, Maher Shahrour, Bassam Abu Libdeh, Mutaz Sultan
BMC Pediatr. 2014; 14: 311. Published online 2014 Dec 20. doi: 10.1186/s12887-014-0311-6
PMCID:
PMC4308912
ArticlePDF–903K
3.
Hartnup Disease Masked by Kwashiorkor
Zerrin Orbak, Vildan Ertekin, Ayse Selimoglu, Nebahat Yilmaz, Huseyin Tan, Murat Konak
J Health Popul Nutr. 2010 Aug; 28(4): 413–415. doi: 10.3329/jhpn.v28i4.6049
PMCID:
PMC2965334
ArticlePDF–183K
4.
HARTNUP DISEASE
A B Patel, A S Prabhu
Indian J Dermatol. 2008 Jan-Mar; 53(1): 31–32. doi: 10.4103/0019-5154.39740
PMCID:
PMC2784584
Article
5.
Absorption of Amino Acids and Peptides in a Child with a Variant of Hartnup Disease and Coexistent Coeliac Disease
M. J. Tarlow, J. W. T. Seakins, June K. Lloyd, D. M. Matthews, B. Cheng, A. J. Thomas
Arch Dis Child. 1972 Oct; 47(255): 798–803. doi: 10.1136/adc.47.255.798
PMCID:
PMC1648212
SummaryPage BrowsePDF–817K
6.
Natural history of Hartnup disease.
B Wilcken, J S Yu, D A Brown
Arch Dis Child. 1977 Jan; 52(1): 38–40. doi: 10.1136/adc.52.1.38
PMCID:
PMC1546217
SummaryPage BrowsePDF–419K
7.
Intestinal absorption of two dipeptides in Hartnup disease
A. M. Asatoor, B. Cheng, K. D. G. Edwards, A. F. Lant, D. M. Matthews, M. D. Milne, F. Navab, A. J. Richards
Gut. 1970 May; 11(5): 380–387. doi: 10.1136/gut.11.5.380
PMCID:
PMC1411553
SummaryPage BrowsePDF–1.1M
8.
Studies on intestinal absorption of amino acids and a dipeptide in a case of Hartnup disease
F. Navab, A. M. Asatoor
Gut. 1970 May; 11(5): 373–379. doi: 10.1136/gut.11.5.373
PMCID:
PMC1411550
SummaryPage BrowsePDF–1.3M
9.
Cellular transport of l-histidine in Hartnup disease
Sverre Halvorsen, Olof Hygstedt, Rudolf Jagenburg, Ottar Sjaastad
J Clin Invest. 1969 Aug; 48(8): 1552–1559. doi: 10.1172/JCI106121
PMCID:
PMC322382
SummaryPage BrowsePDF–904K
10.
Circumvention of defective neutral amino acid transport in Hartnup disease using tryptophan ethyl ester.
A J Jonas, I J Butler
J Clin Invest. 1989 Jul; 84(1): 200–204. doi: 10.1172/JCI114141
PMCID:
PMC303970
SummaryPage BrowsePDF–879K
11.
Transport of dibasic amino acids, cystine, and tryptophan by cultured human fibroblasts: absence of a defect in cystinuria and Hartnup disease
Ulrich Groth, Leon E. Rosenberg
J Clin Invest. 1972 Aug; 51(8): 2130–2142. doi: 10.1172/JCI107020
PMCID:
PMC292370
SummaryPage BrowsePDF–1.8M
12.
An essential role of the reversible electron-bifurcating hydrogenase Hnd for ethanol oxidation in Solidesulfovibrio fructosivorans
Arlette Kpebe, Chloé Guendon, Natalie Payne, Julien Ros, Manel Khelil Berbar, Régine Lebrun, Carole Baffert, Laetitia Shintu, Myriam Brugna
Front Microbiol. 2023; 14: 1139276. Published online 2023 Mar 27. doi: 10.3389/fmicb.2023.1139276
PMCID:
PMC10084766
ArticlePDF–1.0M
13.
Study of Seizure-Manifested Hartnup Disorder Case Induced By Novel Mutations in SLC6A19
Yanmei Zhu, Li Chen, Jia He, Yan Chen, Haiyan Gou, Long Ma, Youyang Qu, Yu Liu, Di Wang, Yulan Zhu
Open Life Sci. 2018 Jan; 13: 22–27. Published online 2018 Mar 20. doi: 10.1515/biol-2018-0003
PMCID:
PMC7874744
ArticlePDF–753K
14.
Electrochemical Characterization of a Complex FeFe Hydrogenase, the Electron-Bifurcating Hnd From Desulfovibrio fructosovorans
Aurore Jacq-Bailly, Martino Benvenuti, Natalie Payne, Arlette Kpebe, Christina Felbek, Vincent Fourmond, Christophe Léger, Myriam Brugna, Carole Baffert
Front Chem. 2020; 8: 573305. Published online 2021 Jan 8. doi: 10.3389/fchem.2020.573305
PMCID:
PMC7820892
ArticlePDF–1.4M
15.
The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition
Stefan Bröer
IUBMB Life. 2009 Jun; 61(6): 591–599. Published online 2009 May 26. doi: 10.1002/iub.210
PMCID:
PMC7165679
ArticlePDF–307K
16.
Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio
H.A. Haijes, Hubertus C.M.T. Prinsen, Monique G.M. de Sain-van der Velden, Nanda M. Verhoeven-Duif, Peter M. van Hasselt, Judith J.M. Jans
Mol Genet Metab Rep. 2020 Mar; 22: 100551. Published online 2019 Dec 27. doi: 10.1016/j.ymgmr.2019.100551
PMCID:
PMC6938934
ArticlePDF–667K
17.
The Hartnup phenotype: Mendelian transport disorder, multifactorial disease.
C R Scriver, B Mahon, H L Levy, C L Clow, T M Reade, J Kronick, B Lemieux, C Laberge
Am J Hum Genet. 1987 May; 40(5): 401–412.
PMCID:
PMC1684147
SummaryPage BrowsePDF–1.3M
18.
Familial pellagra-like skin rash with neurological manifestations.
E Freundlich, M Statter, S Yatziv
Arch Dis Child. 1981 Feb; 56(2): 146–148. doi: 10.1136/adc.56.2.146
PMCID:
PMC1627116
SummaryPage BrowsePDF–467K
19.
Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches
Anhar Hassan
Tremor Other Hyperkinet Mov (N Y) 2023; 13: 9. Published online 2023 Mar 28. doi: 10.5334/tohm.747
PMCID:
PMC10064912
ArticlePDF–842K
20.
DNA sequence-dependent formation of heterochromatin nanodomains
Graeme J. Thorn, Christopher T. Clarkson, Anne Rademacher, Hulkar Mamayusupova, Gunnar Schotta, Karsten Rippe, Vladimir B. Teif
Nat Commun. 2022; 13: 1861. Published online 2022 Apr 6. doi: 10.1038/s41467-022-29360-y
PMCID:
PMC8986797
ArticlePDF–4.0M

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