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Items: 1 to 20 of 32

1.
Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis
John W Belmont, Barbara Reid, William Taylor, Susan S Baker, Warren H Moore, Michael C Morriss, Susan M Podrebarac, Nancy Glass, I David Schwartz
BMC Pediatr. 2002; 2: 4. Published online 2002 Apr 25. doi: 10.1186/1471-2431-2-4
PMCID:
PMC111192
AbstractArticlePDF–679K
2.
A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe
Walid Fazeli, Sigrid Kaczmarek, Martin Kirschstein, René Santer
BMC Gastroenterol. 2015; 15: 90. Published online 2015 Jul 28. doi: 10.1186/s12876-015-0316-0
PMCID:
PMC4515929
AbstractArticlePDF–1.4M
3.
Congenital lactose intolerance is triggered by severe mutations on both alleles of the lactase gene
Lena Diekmann, Katrin Pfeiffer, Hassan Y Naim
BMC Gastroenterol. 2015; 15: 36. Published online 2015 Mar 21. doi: 10.1186/s12876-015-0261-y
PMCID:
PMC4432517
AbstractArticlePDF–1.0M
4.
Congenital Lactase Deficiency: Mutations, Functional and Biochemical Implications, and Future Perspectives
Dalanda Wanes, Diab M. Husein, Hassan Y. Naim
Nutrients. 2019 Feb; 11(2): 461. Published online 2019 Feb 22. doi: 10.3390/nu11020461
PMCID:
PMC6412902
AbstractArticlePDF–833K
5.
Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD)
Suvi Torniainen, Roberta Freddara, Taina Routi, Carolien Gijsbers, Carlo Catassi, Pia Höglund, Erkki Savilahti, Irma Järvelä
BMC Gastroenterol. 2009; 9: 8. Published online 2009 Jan 22. doi: 10.1186/1471-230X-9-8
PMCID:
PMC2635369
AbstractArticlePDF–549K
6.
Congenital Lactose Malabsorption
B. Levin, J. M. Abraham, E. Ann Burgess, Patricia G. Wallis
Arch Dis Child. 1970 Apr; 45(240): 173–177. doi: 10.1136/adc.45.240.173
PMCID:
PMC2020274
SummaryPage BrowsePDF–922K
7.
Congenital lactase deficiency. A clinical study on 16 patients.
E Savilahti, K Launiala, P Kuitunen
Arch Dis Child. 1983 Apr; 58(4): 246–252. doi: 10.1136/adc.58.4.246
PMCID:
PMC1627962
SummaryPage BrowsePDF–971K
8.
Mutations in the Translated Region of the Lactase Gene (LCT) Underlie Congenital Lactase Deficiency
Mikko Kuokkanen, Jorma Kokkonen, Nabil Sabri Enattah, Tero Ylisaukko-oja, Hanna Komu, Teppo Varilo, Leena Peltonen, Erkki Savilahti, Irma Järvelä
Am J Hum Genet. 2006 Feb; 78(2): 339–344. Published online 2005 Dec 15. doi: 10.1086/500053
PMCID:
PMC1380240
AbstractArticlePDF–622K
9.
Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene.
I Järvelä, N S Enattah, J Kokkonen, T Varilo, E Savilahti, L Peltonen
Am J Hum Genet. 1998 Oct; 63(4): 1078–1085. doi: 10.1086/302064
PMCID:
PMC1377496
SummaryPDF–630K
10.
Breath hydrogen test for detecting lactose malabsorption in infants and children. Prevalence of lactose malabsorption in Japanese children and adults.
O Nose, Y Iida, H Kai, T Harada, M Ogawa, H Yabuuchi
Arch Dis Child. 1979 Jun; 54(6): 436–440. doi: 10.1136/adc.54.6.436
PMCID:
PMC1545434
SummaryPage BrowsePDF–755K
11.
Thyrotoxicosis in a neonate of a mother with no history of thyroid disease.
D S Brookfield, A E McCandless, C S Smith
Arch Dis Child. 1976 Apr; 51(4): 314–316. doi: 10.1136/adc.51.4.314
PMCID:
PMC1545960
SummaryPage BrowsePDF–658K
12.
Cow’s milk-induced gastrointestinal disorders: From infancy to adulthood
Mohammed Al-Beltagi, Nermin Kamal Saeed, Adel Salah Bediwy, Reem Elbeltagi
World J Clin Pediatr. 2022 Nov 9; 11(6): 437–454. Published online 2022 Nov 9. doi: 10.5409/wjcp.v11.i6.437
PMCID:
PMC9685681
AbstractArticlePDF–622K
13.
A rare case of arthrogryposis multiplex congenita in a 2-year-old boy case report
Asfia Waseem, Aresha Masood Shah, Abbas Ali Hussain, Sumeet Kumar, Kiran Fatima
SAGE Open Med Case Rep. 2023; 11: 2050313X231200418. Published online 2023 Sep 26. doi: 10.1177/2050313X231200418
PMCID:
PMC10524061
AbstractArticlePDF–1.2M
14.
Lack of effect of lactose digestion status on baseline fecal microflora
Andrew Szilagyi, Ian Shrier, George Chong, Jung Sung Je, Sunghoon Park, Debra Heilpern, Catherine Lalonde, Louis-Francois Cote, Byong Lee
Can J Gastroenterol. 2009 Nov; 23(11): 753–759. doi: 10.1155/2009/693794
PMCID:
PMC2777088
AbstractArticlePDF–883K
15.
Sfrp5 Is an Anti-Inflammatory Adipokine That Modulates Metabolic Dysfunction in Obesity
Noriyuki Ouchi, Akiko Higuchi, Koji Ohashi, Yuichi Oshima, Noyan Gokce, Rei Shibata, Yuichi Akasaki, Akihiko Shimono, Kenneth Walsh
Science. Author manuscript; available in PMC 2011 Jul 11.
Published in final edited form as: Science. 2010 Jul 23; 329(5990): 454–457. Published online 2010 Jun 17. doi: 10.1126/science.1188280
PMCID:
PMC3132938
AbstractArticlePDF–1.0M
16.
Comparative Study of Streptococcus mutans Laboratory Strains and Fresh Isolates from Carious and Caries-Free Tooth Surfaces and from Subjects with Hereditary Fructose Intolerance
Christian Vadeboncoeur, Luc Trahan
Infect Immun. 1983 Apr; 40(1): 81–90. doi: 10.1128/iai.40.1.81-90.1983
PMCID:
PMC264820
SummaryPage BrowsePDF–1.4M
17.
Peroxisome proliferator‐activated receptor gamma (PPARγ) regulates lactase expression and activity in the gut
Mathurin Fumery, Silvia Speca, Audrey Langlois, Anne‐Marie Davila, Caroline Dubuquoy, Marta Grauso, Anthony Martin Mena, Martin Figeac, Daniel Metzger, Christel Rousseaux, Jean‐Frederic Colombel, Laurent Dubuquoy, Pierre Desreumaux, Benjamin Bertin
EMBO Mol Med. 2017 Nov; 9(11): 1471–1481. Published online 2017 Sep 25. doi: 10.15252/emmm.201707795
PMCID:
PMC5666307
AbstractArticlePDF–1.2M
18.
Clinical evaluation, biochemistry and genetic polymorphism analysis for the diagnosis of lactose intolerance in a population from northeastern Brazil
Paulo Roberto Lins Ponte, Pedro Henrique Quintela Soares de Medeiros, Alexandre Havt, Joselany Afio Caetano, David A C Cid, Mara de Moura Gondim Prata, Alberto Melo Soares, Richard L Guerrant, Josyf Mychaleckyj, Aldo Ângelo Moreira Lima
Clinics (Sao Paulo) 2016 Feb; 71(2): 82–89. Published online 2016 Feb. doi: 10.6061/clinics/2016(02)06
PMCID:
PMC4763107
AbstractArticlePDF–739K
19.
ChREBP-Knockout Mice Show Sucrose Intolerance and Fructose Malabsorption
Takehiro Kato, Katsumi Iizuka, Ken Takao, Yukio Horikawa, Tadahiro Kitamura, Jun Takeda
Nutrients. 2018 Mar; 10(3): 340. Published online 2018 Mar 10. doi: 10.3390/nu10030340
PMCID:
PMC5872758
AbstractArticlePDF–4.2M
20.
Assessment of lactase activity in humans by measurement of galactitol and galactonate in serum and urine after milk intake
Nathalie Vionnet, Linda H Münger, Carola Freiburghaus, Kathryn J Burton, Grégory Pimentel, François P Pralong, René Badertscher, Guy Vergères
Am J Clin Nutr. 2019 Feb; 109(2): 470–477. Published online 2019 Feb 5. doi: 10.1093/ajcn/nqy296
PMCID:
PMC6367971
AbstractArticlePDF–629K

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