(Q35933871)

11 August 2017

4 references

23 March 2019

21 March 2019

19 September 2019

3 July 2021

Congenital diarrheal disorders: an updated diagnostic approach (English)

1 reference

gastrointestinal system disease

11 August 2017

0 references

3 references

23 March 2019

21 March 2019

19 September 2019

4 references

23 March 2019

21 March 2019

19 September 2019

3 July 2021

biomedical investigative technique

1 reference

molecular diagnostic techniques

19 September 2019

1 reference

3 July 2021

Gianluca Terrin

1

1 reference

11 August 2017

Rossella Tomaiuolo

2

1 reference

11 August 2017

Annalisa Passariello

3

1 reference

11 August 2017

Ausilia Elce

4

1 reference

11 August 2017

Felice Amato

5

1 reference

11 August 2017

Margherita Di Costanzo

6

1 reference

11 August 2017

Giuseppe Castaldo

7

1 reference

11 August 2017

Roberto Berni Canani

8

1 reference

11 August 2017

language of work or name

English

0 references

publication date

29 March 2012

5 references

International Journal of Molecular Sciences

11 August 2017

23 March 2019

21 March 2019

19 September 2019

3 July 2021

5 references

11 August 2017

23 March 2019

21 March 2019

19 September 2019

3 July 2021

13

1 reference

11 August 2017

4

1 reference

11 August 2017

4168-4185

1 reference

Creative Commons Attribution 3.0 Unported

11 August 2017

4 references

23 March 2019

21 March 2019

19 September 2019

on focus list of Wikimedia project

3 July 2021

copyright status

copyrighted

0 references

ScienceSource

0 references

cites work

An overview of hereditary pancreatitis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Recent progress in congenital diarrheal disorders

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Neonatal diabetes and congenital malabsorptive diarrhea attributable to a novel mutation in the human neurogenin-3 gene coding sequence

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Update on SLC26A3 mutations in congenital chloride diarrhea

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Lysinuric protein intolerance: reviewing concepts on a multisystem disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Intestinal fructose transport and malabsorption in humans.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Tufting Enteropathy with EpCAM Mutations in Two Siblings

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Diarrhea in neonatal intensive care unit.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Genetic control of the inflammatory T-cell response in regulatory T-cell deficient scurfy mice

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Molecular diagnostics: between chips and customized medicine

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

From autoimmune enteropathy to the IPEX (immune dysfunction, polyendocrinopathy, enteropathy, X-linked) syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Review article: the clinical management of congenital chloride diarrhoea

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Autoimmune enteropathy in children and adults.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

GLUT2 mutations, translocation, and receptor function in diet sugar managing

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Syndromic (phenotypic) diarrhea in early infancy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Chronic enteropathy: molecular basis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Review article: fructose malabsorption and the bigger picture

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Mutant neurogenin-3 in congenital malabsorptive diarrhea

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Disaccharide digestion: clinical and molecular aspects

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Butyrate as an effective treatment of congenital chloride diarrhea

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Neonatal congenital microvillus atrophy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Genetic disorders of the pancreas

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Familial hypobetalipoproteinemia: a review

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Mutations in SBDS are associated with Shwachman-Diamond syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

APECED mutations in the autoimmune regulator (AIRE) gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Prenatal diagnosis of cystic fibrosis: a case of twin pregnancy diagnosis and a review of 5 years' experience

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

2 October 2017

Mechanisms of diarrhoea

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Molecular diagnosis of cystic fibrosis: comparison of four analytical procedures.

2 October 2017

1 reference

https://api.crossref.org/works/10.3390%2FIJMS13044168

Congenital maltase-glucoamylase deficiency associated with lactase and sucrase deficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS13044168

Extensive molecular analysis of patients bearing CFTR-related disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS13044168

Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS13044168

Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS13044168

Three novel CFTR polymorphic repeats improve segregation analysis for cystic fibrosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS13044168

Intolerance to lactose and other dietary sugars

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Etiology and risk factors of severe and protracted diarrhea.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344208

Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance

24 September 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS13044168

Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS13044168

Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: A multicentric Italian study

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS13044168

Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients

21 January 2018

1 reference

12 December 2020

Autoimmune polyglandular syndromes

1 reference

12 December 2020

[Digestive and absorptive processes of lipids]

1 reference

12 December 2020

Congenital pancreatic lipase deficiency

1 reference

12 December 2020

Identifiers

DOI

10.3390/IJMS13044168

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

22605972

1 reference