References

Ament ME, Perera DR, Esther LJ. Sucrase-isomaltase deficiency – a frequently misdiagnosed disease. J Pediatr. 1973;83:721-727.

http://www.ncbi.nlm.nih.gov/pubmed?term=Ament%20ME%2C%20Perera%20DR%2C%20Esther%20LJ.%20Sucrase-isomaltase%20deficiency%20-%20a%20frequently%20misdiagnosed%20disease

 

Anderson CM, Kerry KR, Townley RR. An inborn defect of intestinal absorption of certain monosaccharides. Arch Dis Child. 1965;40:1-6.

http://www.ncbi.nlm.nih.gov/pubmed?term=Anderson%20CM%2C%20Kerry%20KR%2C%20Townley%20RR.%20%20An%20inborn%20defect%20of%20intestinal%20absorption%20of%20certain%20monosaccharides

 

Anderson CM, Messer M, Townley RR, et al. Intestinal sucrase and isomaltase deficiency in two siblings. Pediatrics. 1963;31:1003-1010.

http://www.ncbi.nlm.nih.gov/pubmed?term=Anderson%20CM%2C%20Messer%20M%2C%20Townley%20RR%2C%20et%20al.%20%20Intestinal%20sucrase%20and%20isomaltase%20deficiency%20in%20two%20siblings

 

Antonowicz I, Lloyd-Still JD, Khaw KT, Shwachman H. Congenital sucrase-isomaltase deficiency. Observations over a period of 6 years. Pediatrics. 1972;49:847-853.

https://www.ncbi.nlm.nih.gov/pubmed/?term=Congenital+sucrase-isomaltase+deficiency.+Observations+over+a+period+of+6+years

 

Auricchio S, Dahlqvist A, Semenza G. Solubilization of the human intestinal disaccharidases. Biochim Biophys Acta. 1963;73:582-7.

http://www.ncbi.nlm.nih.gov/pubmed?term=Auricchio%20S%2C%20Dahlqvist%20A%2C%20Semenza%20G.%20%20Solubilization%20of%20the%20human%20intestinal%20disaccharidases

 

Auricchio S, Rubino A, Prader A, et al. Intestinal glycosidase activities in congenital malabsorption of disaccharides. J Pediatr. 1965;66:555-564.

http://www.ncbi.nlm.nih.gov/pubmed?term=Auricchio%20S%2C%20Rubino%20A%2C%20Prader%20A%2C%20et%20al.%20%20Intestinal%20glycosidase%20activities%20in%20congenital%20malabsorption%20of%20disaccharides

 

Bond JH, Levitt MD. Use of breath hydrogen (H2) in the study of carbohydrate absorption. Am J Dig Dis. 1977;22:379-382.

http://www.ncbi.nlm.nih.gov/pubmed?term=Bond%20JH%2C%20Levitt%20MD.%20Use%20of%20breath%20hydrogen%20(H2)%20in%20the%20study%20of%20carbohydrate%20absorption

 

Calorie Control Council.

http://www.caloriecontrol.org

 

Codain L, Eaton SB, Sebastian A, et al. Origins and evolution of the Western diet: health implications for the 21st century. Am J Clin Nutr. 2005;81:351-54.

http://www.ncbi.nlm.nih.gov/pubmed?term=Codain%20L%2C%20Eaton%20SB%2C%20Sebastian%20A%2C%20et%20al.%20Origins%20and%20evolution%20of%20the%20Western%20diet%3A%20%20health%20implications%20for%20the%2021st%20century

 

Data on file, QOL Medical. Long-term sucrase enzyme therapy for congenital sucrase-isomaltase deficiency (study report). 1998.

 

Davidson GP, Robb TA. Value of breath hydrogen analysis in management of diarrheal illness in childhood: comparison with duodenal biopsy. J Pediatr Gastroenterol Nutr. 1985;4(3):381-7.

http://www.ncbi.nlm.nih.gov/pubmed?term=Davidson%20GP%2C%20Robb%20TA.%20%20Value%20of%20breath%20hydrogen%20analysis%20in%20management%20of%20diarrheal%20illness%20in%20childhood%3A%20comparison%20with%20duodenal%20biopsy

 

Davis MB, et al. Mapping of the gene encoding human sucrase-isomaltase (SI) to chromosome 3q25-26. Cytogenet Cell Genet. 1987;46:604.

 

Dietary reference intakes for energy, carbohydrate, fiber, fat, fatty acids, cholesterol, protein, and amino acids. Washington, DC: Institute of Medicine; 2005:265-338.

http://www.nap.edu/openbook.php?isbn=0309085373

 

Douwes AC, Schaap C, van der Klei-van Moorsel JM. Hydrogen breath test in schoolchildren. Arch Dis Child. 1985;60:333-337.

http://www.ncbi.nlm.nih.gov/pubmed?term=Douwes%20AC%2C%20Schaap%20C%2C%20van%20der%20Klei-van%20Moorsel%20JM.%20Hydrogen%20breath%20test%20in%20schoolchildren

 

Drozdowski LA, Thomason AB. Intestinal sugar transport. World J of Gastroenterology. 2006;12:1657-70.

http://www.genome.jp/dbget-bin/www_bget?pathway+map04973

 

Edwin FZ, Markowitz J, et al. A 9-month old girl with chronic diarrhea. Medscape J Med. 2008;10(8):195.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2562142

 

Family Voices. Families with providers: tips to help families build effective partnerships with their child’s health care providers. 2007(pamphlet).

http://www.familyvoices.org/admin/work_caring/files/partnering_providers.pdf

 

Gray GM. Carbohydrate digestion and absorption. Role of the small intestine. N Engl J Med. 1975;292:1225-1230.

http://www.ncbi.nlm.nih.gov/pubmed?term=Gray%20GM.%20Carbohydrate%20digestion%20and%20absorption.%20Role%20of%20the%20small%20intestine.%20N%20Engl%20J%20Med

 

Gudmand-Hoyer E. Sucrose malabsorption in children: a report of thirty-one Greenlanders. J Pediatr Gastroenterol Nutr. 1985;4:873-877.

http://www.ncbi.nlm.nih.gov/pubmed?term=Gudmand-Hoyer%20E.%20Sucrose%20malabsorption%20in%20children%3A%20a%20report%20of%20thirty-one%20Greenlanders.%20J

 

Gudmand-Hoyer E, Krasilnikoff PA, Skovberg H. Sucrose-isomaltose malabsorption. In: Draper H, ed. Advances in nutritional research; vol 6. New York: Plenum Press, 1984:233-269.

http://www.ncbi.nlm.nih.gov/pubmed/6391112

 

Hamaker BR, Lee BH, Quezada-Calvillo R. Starch digestion and patients with congenital sucrase-isomaltase deficiency. J Pediatr Gastroenterol Nutr. 2012;55(Suppl 2):S24-28.

http://www.ncbi.nlm.nih.gov/pubmed?term=Hamaker%20BR%2C%20Lee%2C%20BH%2C%20Quezada-Calvillo%2C%20R.%20%20Starch%20digestion%20and%20patients%20with%20congenital%20sucrase-isomaltase%20deficiency.):S24-S28

 

Harms HK, Bertle-Harms RM, Bruer-Kleis D. Enzyme-substitution therapy with the yeast Saccharomyces cerevisiae in congenital sucrase-isomaltase deficiency. N Engl J Med. 1987;316:1306-1309.

https://www.ncbi.nlm.nih.gov/pubmed/3553946

 

Hunziker W, Spiess M, Semenza G, Lodish HF. The sucrase-isomaltase complex: primary structure, membrane-orientation, and evolution of a stalked, intrinsic brush border protein. Cell. 1986;46:227-234.

http://www.ncbi.nlm.nih.gov/pubmed?term=Hunziker%20W%2C%20Spiess%20M%2C%20Semenza%20G%2C%20Lodish%20HF.%20The%20sucrase-isomaltase%20complex%3A%20primary%20structure%2C%20membrane-orientation%2C%20and%20evolution%20of%20a%20stalked%2C%20intrinsic%20brush%20border%20protein

 

International Food Information Council.

http://www.foodinsight.org/ Calorie Control Council (http://www.caloriecontrol.org).

 

Jonega JV. Digestion, disease and diet: mechanisms and management of irritable bowel syndrome and other digestive disorders. Powerpoint presentation. Action Against Allergy Workshop, The Royal Entomological Society, Queens Gate, London, September 24, 2003.

 

Jonega, JV. Disaccharide intolerance. In Dealing with Food Allergies: A Practical Guide to Detecting Culprit Foods and Eating a Healthy, Enjoyable Diet. 1st ed. Boulder, CO: Bull Publishing Company; 223-232.

http://www.amazon.com/Dealing-Food-Allergies-Practical-Detecting/dp/092352164X

 

Joseph F, Jr., Rosenberg AJ. Breath hydrogen testing: diseased versus normal patients. J Pediatr Gastroenterol Nutr. 1988;7:787-788.

http://www.ncbi.nlm.nih.gov/pubmed?term=Joseph%20F%2C%20Jr.%2C%20Rosenberg%20AJ.%20Breath%20hydrogen%20testing%3A%20diseased%20versus%20normal%20patients

 

Karnsakul W, Nichols B. Disaccharidase activities in dyspeptic children: biochemical and molecular investigations of maltase-glucoamylase activity. J Pediatr Gastroenterol Nutr. 2002;35:551-556.

http://www.ncbi.nlm.nih.gov/pubmed?term=Karnsakul%20W%2C%20Nichols%20B.%20%20Disaccharidase%20activities%20in%20dyspeptic%20children%3A%20%20biochemical%20and%20molecular%20investigations%20of%20maltase-glucoamylase%20activity

 

Kilby A, Burgess EA, Wigglesworth S, Walker-Smith JA. Sucrase-isomaltase deficiency. A follow-up report. Arch Dis Child. 1978;53:677-679.

http://www.ncbi.nlm.nih.gov/pubmed?term=Kilby%20A%2C%20Burgess%20EA%2C%20Wigglesworth%20S%2C%20Walker-Smith%20JA.%20Sucrase-isomaltase%20deficiency.%20A%20follow-up%20report

 

Lebenthal E, Khin-Maung-U, Zheng BY, et al. Small intestinal glucoamylase deficiency and starch malabsorption: a newly recognized alpha-glucosidase deficiency in children. J Pediatr. 1994;124(4):541-6.

http://www.ncbi.nlm.nih.gov/pubmed?term=Lebenthal%20E%2C%20Khin-Maung-U%2C%20Zheng%20BY%2C%20et%20al.%20Small%20intestinal%20glucoamylase%20deficiency%20and%20starch%20malabsorption%3A%20a%20newly%20recognized%20alpha-glucosidase%20deficiency%20in%20children

 

Lin AH, Hamaker BR, Nichols BL. Direct starch digestion by sucrase-isomaltase and maltase-glucoamylase. J Pediatr Gastroenterol Nutr. 2012;55(Suppl 2):S43-S45.

http://www.ncbi.nlm.nih.gov/pubmed/23103656

 

McMeans AR. Congenital sucrase-isomaltase deficiency: diet assessment and education guidelines. J Pediatr Gastroenterol Nutr. 2012;55(Suppl 2):S37-S39.

http://www.ncbi.nlm.nih.gov/pubmed?term=McMeans%20AR.%20%20Congenital%20sucrase-isomaltase%20deficiency%3A%20%20diet%20assessment%20and%20education%20guidelines

 

Naim HY, Heine M, Zimmer IP, et al. Congenital sucrase-isomaltase deficiency: heterogeneity of inheritance, trafficking, and function of an intestinal enzyme complex. J Pediatr Gastroenterol Nutr. 2012;55(Suppl 2):S13-S20.

https://www.ncbi.nlm.nih.gov/pubmed/?term=Congenital+sucrase-isomaltase+deficiency%3A+heterogeneity+of+inheritance%2C+trafficking%2C+and+function+of+an+intestinal+enzyme+complex

 

Naim HY, Roth J, Sterchi EE, et al. Sucrase-isomaltase deficiency in humans. Different mutations disrupt intracellular transport, processing, and function of an intestinal brush border enzyme. J Clin Invest. 1988;82:667-679.

http://www.ncbi.nlm.nih.gov/pubmed?term=Naim%20HY%2C%20Roth%20J%2C%20Sterchi%20EE%2C%20et%20al.%20Sucrase-isomaltase%20deficiency%20in%20humans.%20Different%20mutations%20disrupt%20intracellular%20transport%2C%20processing%2C%20and%20function%20of%20an%20intestinal%20brush%20border%20enzyme

 

Nichols BL, Auricchio S. 50 years of progress since congenital sucrase-isomaltase deficiency recognition. J Pediatr Gastroenterol Nutr. 2012;55(Suppl 2):S2-S7.

http://www.ncbi.nlm.nih.gov/pubmed?term=Nichols%20BL%2C%20Auricchio%2C%20S.%20%2050%20years%20of%20progress%20since%20congenital%20sucrase-isomaltase%20deficiency%20recognition

 

Nichols BL, Avery SE, Karnsakul W, et al. Congenital maltase-glucoamylase deficiency associated with lactase and sucrase deficiencies. J Pediatr Gastroenterol Nutr. 2002;35:573-579.

http://www.ncbi.nlm.nih.gov/pubmed?term=Nichols%20BL%2C%20Avery%20SE%2C%20Karnsakul%20W%2C%20et%20al.%20%20Congenital%20maltase-glucoamylase%20deficiency%20associated%20with%20lactase%20and%20sucrase%20deficiencies

 

The New Zealand Food Composition Database (The New Zealand Institute for Plant & Food Research Limited and the New Zealand Ministry of Health).

http://www.foodcomposition.co.nz/

 

Ouwendij J, Moolenaar CE, Pters WJ, et al. Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment. J Clin Invest. 1996;97:633-641.

https://www.ncbi.nlm.nih.gov/pubmed/?term=Congenital+sucrase-isomaltase+deficiency.+Identification+of+a+glutamine+to+proline+substitution+that+leads+to+a+transport+block+of+sucrase-isomaltase+in+a+pre-Golgi+compartment

 

Perman JA, Barr RG, Watkins JB. Sucrose malabsorption in children: noninvasive diagnosis by interval breath hydrogen determination. J Pediatr. 1978;93:17-22.

http://www.ncbi.nlm.nih.gov/pubmed?term=Perman%20JA%2C%20Barr%20RG%2C%20Watkins%20JB.%20Sucrose%20malabsorption%20in%20children%3A%20noninvasive%20diagnosis%20by%20interval%20breath%20hydrogen%20determination

 

Peterson ML, Herber R. Intestinal sucrase deficiency. Trans Assoc Am Physicians. 1967;80:275-283.

http://www.ncbi.nlm.nih.gov/pubmed?term=Peterson%20ML%2C%20Herber%20R.%20Intestinal%20sucrase%20deficiency

 

Quezada-Calvillo R, Robayo-Torres CC, Ao Z, et al. Luminal substrate ‘brake’ on mucosal maltase-glucoamylase activity regulates total rate of starch digestion to glucose. J Pediatr Gastroenterol Nutr. 2007;45:32-43.

http://www.ncbi.nlm.nih.gov/pubmed?term=Quezada-Calvillo%20R%2C%20Robayo-Torres%20CC%2C%20Ao%20Z%2C%20et%20al.%20%20Luminal%20substrate%20‘brake’%20on%20mucosal%20maltase-glucoamylase%20activity%20regulates%20total%20rate%20of%20starch%20digestion%20to%20glucose

 

Robayo-Torres CC, Opekun AR, Quezada-Calvillo R, et al. 13C-breath tests for sucrose digestion in congenital sucrase isomaltase-deficient and sacrosidase-supplemented patients. J Pediatr Gastroenterol Nutr. 2009;48:412-418.

http://www.ncbi.nlm.nih.gov/pubmed?term=Robayo-Torres%20CC%2C%20Opekun%20AR%2C%20Quezada-Calvillo%20R%2C%20et%20al.%2013C-breath%20tests%20for%20sucrose%20digestion%20in%20congenital%20sucrase%20isomaltase-deficient%20and%20sacrosidase-supplemented%20patients

 

Ritz V, Alfalah M, Zimmer KP, et al. Congenital sucrase-isomaltase deficiency because of an accumulation of the mutant enzyme in the endoplasmic reticulum. Gastroenterol. 2003;125:1678-1685.

http://www.ncbi.nlm.nih.gov/pubmed?term=Ritz%20V%2C%20Alfalah%20M%2C%20Zimmer%20KP%2C%20et%20al.%20%20Congenital%20sucrase-isomaltase%20deficiency%20because%20of%20an%20accumulation%20of%20the%20mutant%20enzyme%20in%20the%20endoplasmic%20reticulum

 

Sander P, Alfalah M, Naim HY. Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption. Hum Mutat. 2006;27:119.

http://www.ncbi.nlm.nih.gov/pubmed?term=Sander%20P%2C%20Alfalah%20M%2C%20Naim%20HY.%20%20Novel%20mutations%20in%20the%20human%20sucrase-isomaltase%20gene%20(SI)%20that%20cause%20congenital%20carbohydrate%20malabsorption

 

Semenza G, Auricchio S, Rubino A, et al. Lack of some intestinal maltases in a human disease transmitted by a single genetic factor. Biochim Biophys Acta. 1965;105:386-389.

http://www.ncbi.nlm.nih.gov/pubmed?term=Semenza%20G%2C%20Auricchio%20S%2C%20Rubino%2C%20A%2C%20et%20al.%20%20Lack%20of%20some%20intestinal%20maltases%20in%20a%20human%20disease%20transmitted%20by%20a%20single%20genetic%20factor

 

Skovberg H. Krasilnikoff PA. Maltase-glucoamylase and residual isomaltase in sucrose intolerant patients. J Pediatr Gastroenterol Nutr. 1986;5:365-371.

http://www.ncbi.nlm.nih.gov/pubmed?term=Skovberg%20H.%20Krasilnikoff%20PA.%20%20Maltase-glucoamylase%20and%20residual%20isomaltase%20in%20sucrose%20intolerant%20patients

 

Sucraid® (sacrosidase) Oral Solution Prescribing Information. QOL Medical, LLC. Vero Beach, FL. 2017.

 

Treem WR. Clinical aspects and treatment of congenital sucrase-isomaltase deficiency. J Pediatr Gastroenterol Nutr. 2012;55(Suppl 2):S7-S13.

http://www.ncbi.nlm.nih.gov/pubmed?term=Treem%20WR.%20%20Clinical%20aspects%20and%20treatment%20of%20congenital%20sucrase-isomaltase%20deficiency

 

Treem WR. Clinical heterogeneity in congenital sucrase-isomaltase deficiency. J Pediatr. 1996;128:727-729.

http://www.ncbi.nlm.nih.gov/pubmed?term=Treem%20WR.%20Clinical%20heterogeneity%20in%20congenital%20sucrase-isomaltase%20deficiency.%20J%20Pediatr

 

Treem WR. Congenital sucrase-isomaltase deficiency. J Pediatr Gastroenterol Nutr. 1995;21:1-14.

http://www.ncbi.nlm.nih.gov/pubmed/8576798

 

Treem WR, Ahsan N, Sullivan B, et al. Evaluation of liquid yeast-derived sucrase enzyme replacement in patients with sucrase-isomaltase deficiency. Gastroenterol. 1993;105:1061-1068.

http://www.ncbi.nlm.nih.gov/pubmed?term=Treem%20WR%2C%20Ahsan%20N%2C%20Sullivan%20B%2C%20et%20al.%20Evaluation%20of%20liquid%20yeast-derived%20sucrase%20enzyme%20replacement%20in%20patients%20with%20sucrase-isomaltase%20deficiency

 

United States Department of Agriculture (USDA) National Nutrient Database for Standard Reference.

http://ndb.nal.usda.gov/

 

Uhrich S, Wu Z, Huang J, et al. Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSID. J Pediatr Gastroenterol Nutr. 2012;55(Suppl 2):S34-S35.

http://www.ncbi.nlm.nih.gov/pubmed?term=Uhrich%20S%2C%20Wu%20Z%2C%20Huang%20J%20et%20al.%20Four%20mutations%20in%20the%20SI%20gene%20are%20responsible%20for%20the%20majority%20of%20clinical%20symptoms%20of%20CSID

 

Weijers HA, Van De Kamer JH, Mossel DA, et al. Diarrhoea caused by deficiency of sugar-splitting enzymes. Lancet. 1960;2:296-297.

https://www.ncbi.nlm.nih.gov/pubmed/13843498

 

Welsh JD, Poley JR, Bhatia M, Stevenson DE. Intestinal disaccharidase activities in relation to age, race, and mucosal damage. Gastroenterol. 1978;75:847-855.

http://www.ncbi.nlm.nih.gov/pubmed?term=Welsh%20JD%2C%20Poley%20JR%2C%20Bhatia%20M%2C%20Stevenson%20DE.%20Intestinal%20disaccharidase%20activities%20in%20relation%20to%20age%2C%20race%2C%20and%20mucosal%20damage