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Did you mean e wolcott rallison dysplasia (3 results)?
Wolcott-Rallison syndrome.
Julier C, Nicolino M. Julier C, et al. Orphanet J Rare Dis. 2010 Nov 4;5:29. doi: 10.1186/1750-1172-5-29. Orphanet J Rare Dis. 2010. PMID: 21050479 Free PMC article. Review.
Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disease, characterized by neonatal/early-onset non-autoimmune insulin-requiring diabetes associated with skeletal dysplasia and growth retardation. ...
Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disease, characterized by neonatal/early-onset non-autoim …
Wolcott-Rallison syndrome.
Juneja A, Sultan A, Bhatnagar S. Juneja A, et al. J Indian Soc Pedod Prev Dent. 2012 Jul-Sep;30(3):250-3. doi: 10.4103/0970-4388.105019. J Indian Soc Pedod Prev Dent. 2012. PMID: 23263430
Multiple epiphyseal dysplasia with early-onset diabetes mellitus (also known as Wolcott-Rallison syndrome) is a rare autosomal recessive disorder that manifests itself in early infancy with symptoms of diabetes mellitus. ...There is usually a short trunk, exc …
Multiple epiphyseal dysplasia with early-onset diabetes mellitus (also known as Wolcott-Rallison syndrome) is a rare au …
Wolcott-Rallison syndrome.
al-Gazali LI, Makia S, Azzam A, Hall CM. al-Gazali LI, et al. Clin Dysmorphol. 1995 Jul;4(3):227-33. Clin Dysmorphol. 1995. PMID: 7551159
Two sibs with early onset diabetes and epiphysed dysplasia (Wolcott-Rallison syndrome) are described. The epiphyseal changes were radiologically apparent at 6 months of age in one of them, and both developed insulin dependent diabetes in the first few weeks o …
Two sibs with early onset diabetes and epiphysed dysplasia (Wolcott-Rallison syndrome) are described. The epiphyseal ch …
Natural history of Wolcott-Rallison syndrome: A systematic review and follow-up study.
Aldrian D, Bochdansky C, Kavallar AM, Mayerhofer C, Deeb A, Habeb A, Romera Rabasa A, Khadilkar A, Uçar A, Knoppke B, Zafeiriou D, Lang-Muritano M, Miqdady M, Judmaier S, McLin V, Furdela V, Müller T, Vogel GF. Aldrian D, et al. Liver Int. 2024 Mar;44(3):811-822. doi: 10.1111/liv.15834. Epub 2024 Jan 17. Liver Int. 2024. PMID: 38230874
BACKGROUND AND AIMS: To systematically review the literature for reports on Wolcott-Rallison syndrome, focusing on the spectrum and natural history, genotype-phenotype correlations, patient and native liver survival, and long-term outcomes. ...Overall surviva …
BACKGROUND AND AIMS: To systematically review the literature for reports on Wolcott-Rallison syndrome, focusing on the …
Wolcott-Rallison Syndrome, a Rare Cause of Permanent Diabetes Mellitus in Infants-Case Report.
Niculae AȘ, Bolba C, Grama A, Mariş A, Bodea L, Căinap S, Mititelu A, Fufezan O, Pop TL. Niculae AȘ, et al. Pediatr Rep. 2023 Oct 16;15(4):608-616. doi: 10.3390/pediatric15040056. Pediatr Rep. 2023. PMID: 37873802 Free PMC article.
Wolcott-Rallison syndrome is a rare cause of permanent neonatal diabetes mellitus caused by mutations in the eukaryotic translation initiation factor 2 alpha kinase 3 gene (EIF2AK3). ...The follow-up for 18 months after diagnosis is detailed, illustrating bot …
Wolcott-Rallison syndrome is a rare cause of permanent neonatal diabetes mellitus caused by mutations in the eukaryotic …
Frequency and spectrum of Wolcott-Rallison syndrome in Saudi Arabia: a systematic review.
Habeb AM. Habeb AM. Libyan J Med. 2013 Jun 10;8(1):21137. doi: 10.3402/ljm.v8i0.21137. Libyan J Med. 2013. PMID: 23759358 Free PMC article.
BACKGROUND: Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 gene mutations and characterized by permanent neonatal diabetes (PNDM), skeletal dysplasia, and recurrent hepatitis. ...
BACKGROUND: Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 gene mutations and characterized by permanen …
Wolcott-Rallison syndrome: diabetes mellitus and spondyloepiphyseal dysplasia.
Stöss H, Pesch HJ, Pontz B, Otten A, Spranger J. Stöss H, et al. Eur J Pediatr. 1982 Mar;138(2):120-9. doi: 10.1007/BF00441137. Eur J Pediatr. 1982. PMID: 7094931
From the available data it appears that the association of characteristic chondro-osseous and endocrine abnormalities is non-random and that the lesions are independent manifestations of a pleiotropic gene. We propose to call this disorder the Wolcott-Rallison Sy …
From the available data it appears that the association of characteristic chondro-osseous and endocrine abnormalities is non-random and that …
Wolcott-Rallison syndrome: late-onset diabetes, multiple epiphyseal dysplasia, and acute liver failure - a case report.
Teke S, Kuloğlu Z, Demir AM, Kirsaçlioğlu CT, Mutlu Albayrak H, Özsu E, Türktan İ, Özdemir S, Fitoz ÖS, Kendirli T, Teber S, Eminoğlu FT, Kansu A. Teke S, et al. J Pediatr Endocrinol Metab. 2025 May 26;38(8):868-872. doi: 10.1515/jpem-2025-0116. Print 2025 Aug 26. J Pediatr Endocrinol Metab. 2025. PMID: 40432266
OBJECTIVES: Wolcott-Rallison syndrome (WRS) is an autosomal recessive multisystemic genetic disorder caused by homozygous mutation in the eukaryotic translation initiation factor 2 alpha kinase 3 gene. ...
OBJECTIVES: Wolcott-Rallison syndrome (WRS) is an autosomal recessive multisystemic genetic disorder caused by homozygo …
Wolcott-Rallison syndrome: a clinical and genetic study of three children, novel mutation in EIF2AK3 and a review of the literature.
Iyer S, Korada M, Rainbow L, Kirk J, Brown RM, Shaw N, Barrett TG. Iyer S, et al. Acta Paediatr. 2004 Sep;93(9):1195-201. Acta Paediatr. 2004. PMID: 15384883 Review.
BACKGROUND: Wolcott-Rallison syndrome is a rare autosomal recessive condition characterized by early infancy onset diabetes mellitus and multiple epiphyseal dysplasia. ...We have identified a novel 4-base pair deletion (nt 3021-3024 del GAGA) in exon 13, whic …
BACKGROUND: Wolcott-Rallison syndrome is a rare autosomal recessive condition characterized by early infancy onset diab …
Wolcott-Rallison syndrome: a case series of three patients.
Memon F, Arif M, Kirmani S, Humayun K. Memon F, et al. Pediatr Endocrinol Diabetes Metab. 2022;28(3):238-240. doi: 10.5114/pedm.2022.118325. Pediatr Endocrinol Diabetes Metab. 2022. PMID: 36106422 Free PMC article.
We herein report 3 cases of genetically proven Wolcott-Rallison syndrome with variable phenotype presentation. CASE SERIES: All cases presented with high glucose levels and were treated with insulin. ...
We herein report 3 cases of genetically proven Wolcott-Rallison syndrome with variable phenotype presentation. CASE SER …
133 results