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Page 1
Mucopolysaccharidosis type I.
Wraith JE, Jones S. Wraith JE, et al. Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:102-6. Pediatr Endocrinol Rev. 2014. PMID: 25345091 Review.
MPS IH (Hurler Disease) affected infants develop a spinal 'gibbus' deformity, persistent nasal discharge, middle ear effusions and frequent upper respiratory infection. They have "coarse", facial features, and an enlarged tongue. . Progressive upper airway di …
MPS IH (Hurler Disease) affected infants develop a spinal 'gibbus' deformity, persistent nasal discharge, middle ear effusions and frequent …
Facial features of lysosomal storage disorders.
D'Souza A, Ryan E, Sidransky E. D'Souza A, et al. Expert Rev Endocrinol Metab. 2022 Nov;17(6):467-474. doi: 10.1080/17446651.2022.2144229. Epub 2022 Nov 16. Expert Rev Endocrinol Metab. 2022. PMID: 36384353 Free PMC article.
ENT and mucopolysaccharidoses.
Bianchi PM, Gaini R, Vitale S. Bianchi PM, et al. Ital J Pediatr. 2018 Nov 16;44(Suppl 2):127. doi: 10.1186/s13052-018-0555-0. Ital J Pediatr. 2018. PMID: 30442170 Free PMC article. Review.
The ENT commitment is therefore to suspect MPS when non-specific ENT pathologies are associated with repeated surgical treatments, unexplainable worsening of diseases despite correct treatment, and with signs, symptoms, and pathological conditions such as hepatomegaly, inguinal h …
The ENT commitment is therefore to suspect MPS when non-specific ENT pathologies are associated with repeated surgical treatments, unexplain …
Cutaneous Manifestations of Mucopolysaccharidoses.
Tran MC, Lam JM. Tran MC, et al. Pediatr Dermatol. 2016 Nov;33(6):594-601. doi: 10.1111/pde.12971. Epub 2016 Sep 7. Pediatr Dermatol. 2016. PMID: 27601403 Review.
Cutaneous manifestations are mostly nonspecific and can include coarse facial features, thickened skin, and excessive hair growth. ...
Cutaneous manifestations are mostly nonspecific and can include coarse facial features, thickened skin, and excessive h …
Rabson-Mendenhall syndrome.
Parveen BA, Sindhuja R. Parveen BA, et al. Int J Dermatol. 2008 Aug;47(8):839-41. doi: 10.1111/j.1365-4632.2008.03591.x. Int J Dermatol. 2008. PMID: 18717867
This is characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia hypertrichosis, premature and dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia and postprandial hypergl …
This is characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia hypertrichosis …
Mucopolysaccharidoses: early diagnostic signs in infants and children.
Galimberti C, Madeo A, Di Rocco M, Fiumara A. Galimberti C, et al. Ital J Pediatr. 2018 Nov 16;44(Suppl 2):133. doi: 10.1186/s13052-018-0550-5. Ital J Pediatr. 2018. PMID: 30442162 Free PMC article. Review.
The different types, having clinical, biochemical, and genetic heterogeneity, share key clinical features in varying combinations, including joint and skeletal dysplasia, coarse facial features, corneal clouding, inguinal or abdominal hernias, recurrent upper …
The different types, having clinical, biochemical, and genetic heterogeneity, share key clinical features in varying combinations, including …
Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.
Gao X, Dai P, Yuan YY. Gao X, et al. Hum Genet. 2022 Apr;141(3-4):821-838. doi: 10.1007/s00439-021-02310-2. Epub 2021 Jul 7. Hum Genet. 2022. PMID: 34232384 Review.
Deafness and onychodystrophy syndromes are a group of phenotypically overlapping syndromes, which include DDOD syndrome (dominant deafness-onychodystrophy), DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation and seizures) and Zimmermann-Laband syndrome …
Deafness and onychodystrophy syndromes are a group of phenotypically overlapping syndromes, which include DDOD syndrome (dominant deafness-o …
Free sialic acid storage disorder: Progress and promise.
Huizing M, Hackbarth ME, Adams DR, Wasserstein M, Patterson MC, Walkley SU, Gahl WA; FSASD Consortium. Huizing M, et al. Neurosci Lett. 2021 Jun 11;755:135896. doi: 10.1016/j.neulet.2021.135896. Epub 2021 Apr 20. Neurosci Lett. 2021. PMID: 33862140 Free PMC article. Review.
SLC17A5 defects cause free sialic acid and some other acidic hexoses to accumulate in lysosomes, resulting in enlarged lysosomes in some cell types and 10-100-fold increased urinary excretion of free sialic acid. Clinical features of FSASD include coarse facial f …
SLC17A5 defects cause free sialic acid and some other acidic hexoses to accumulate in lysosomes, resulting in enlarged lysosomes in some cel …
Dilated cardiomyopathy in mucolipidosis type 2.
Carboni E, Sestito S, Lucente M, Morrone A, Zampini L, Chimenz R, Ceravolo MD, De Sarro R, Ceravolo G, Calabrò MP, Parisi F, Moricca MT, Pensabene L, Musolino D, Concolino D. Carboni E, et al. J Biol Regul Homeost Agents. 2020 Jul-Aug;34(4 Suppl. 2):71-77. SPECIAL ISSUE: FOCUS ON PEDIATRIC CARDIOLOGY. J Biol Regul Homeost Agents. 2020. PMID: 33000604
Mucolipidosis II and III are lysosomal storage diseases caused by pathogenetic mutations in GNPTAB and GNPTG genes which cause an impaired activity of the lysosomal hydrolase N-acetylglucosamine- 1-phosphotransferase, a key enzyme in the synthesis of the mannose-6-phosphate targe …
Mucolipidosis II and III are lysosomal storage diseases caused by pathogenetic mutations in GNPTAB and GNPTG genes which cause an impaired a …
Clinical features and therapeutic outcomes of patients with acromegaly in Saudi Arabia: a retrospective analysis.
AlMalki MH, Ahmad MM, Buhary BM, Aljawair R, Alyamani A, Alhozali A, Alshahrani A, Alzahrani S, Nasser T, Alzahrani W, Raef H, Aldawish M, Elkhzaimy A. AlMalki MH, et al. Hormones (Athens). 2020 Sep;19(3):377-383. doi: 10.1007/s42000-020-00191-0. Epub 2020 May 9. Hormones (Athens). 2020. PMID: 32388630
All cases were caused by pituitary adenomas, of which 92.4% were macroadenomas. Headache, coarse facial features, acral growth, and sweating/oily skin were by far the most frequent presenting complaints. ...
All cases were caused by pituitary adenomas, of which 92.4% were macroadenomas. Headache, coarse facial features, acral …
65 results