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Mortality in patients with alpha-mannosidosis: a review of patients' data and the literature.
Hennermann JB, Raebel EM, Donà F, Jacquemont ML, Cefalo G, Ballabeni A, Malm D. Hennermann JB, et al. Orphanet J Rare Dis. 2022 Jul 23;17(1):287. doi: 10.1186/s13023-022-02422-6. Orphanet J Rare Dis. 2022. PMID: 35871018 Free PMC article. Review.
BACKGROUND: Alpha-mannosidosis is a rare autosomal recessive lysosomal storage disorder (LSD) caused by reduced activity of alpha-mannosidase. ...
BACKGROUND: Alpha-mannosidosis is a rare autosomal recessive lysosomal storage disorder (LSD) caused by reduced activity of al …
Expanding on the phenotypic spectrum of Woodhouse-Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review.
Ali R, Al-Dewik N, Mohammed S, Elfituri M, Agouba S, Musa S, Mahmoud L, Almulla M, El-Akouri K, Mohd H, Bux R, Almulla H, Othman A, Al-Mesaifri F, Shahbeck N, Al-Muriekhi M, Khalifa A, Al-Sulaiman R, Ben-Omran T. Ali R, et al. Am J Med Genet A. 2022 Jan;188(1):116-129. doi: 10.1002/ajmg.a.62501. Epub 2021 Sep 30. Am J Med Genet A. 2022. PMID: 34590781 Review.
Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neuroendocrine and ectodermal disorder caused by variants in the DCAF17 gene. ...Neurological manifestations were overlapping among patients with intellectual disability (ID) being the most …
Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neuroendocrine and ectodermal disorder caused by variants in the …
Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology.
Zampino G, Mastroiacovo P, Ricci R, Zollino M, Segni G, Martini-Neri ME, Neri G. Zampino G, et al. Am J Med Genet. 1993 Aug 15;47(2):176-83. doi: 10.1002/ajmg.1320470210. Am J Med Genet. 1993. PMID: 8213903 Review.
More recently Borochowitz et al. [Am J Med Genet 43:678-685, 1992] described a new "multiple congenital anomalies/mental retardation syndrome with facio-cutaneous-skeletal involvement." ...Our aim is to better redefine the diagnostic criteria, describe the natural history, …
More recently Borochowitz et al. [Am J Med Genet 43:678-685, 1992] described a new "multiple congenital anomalies/mental retardation …
New multiple congenital anomalies: mental retardation syndrome (MCA/MR) with facio-cutaneous-skeletal involvement.
Borochowitz Z, Pavone L, Mazor G, Rizzo R, Dar H. Borochowitz Z, et al. Am J Med Genet. 1992 Jul 1;43(4):678-85. doi: 10.1002/ajmg.1320430405. Am J Med Genet. 1992. PMID: 1621757 Review.
Five unrelated patients (a male and 4 females) were affected with a previously undefined multiple congenital anomalies/mental retardation syndrome which has been designated the facio-cutaneous-skeletal (FCS) syndrome and which includes mental retardation with specific sociable, h …
Five unrelated patients (a male and 4 females) were affected with a previously undefined multiple congenital anomalies/mental retardation sy …
[Familial intrauterine nanism with constrictive pericarditis, the MuLiBrEy syndrome].
Cotton JB, Rebelle C, Bosio A, Ladreyt-Ponchon JP, Maillet J. Cotton JB, et al. Pediatrie. 1988;43(3):197-203. Pediatrie. 1988. PMID: 3057426 Review. French.
The authors report the case of two siblings with a MU.LI.BR.EY syndrome. This acronym standing for a singular type of recessive autosomal intra-uterine dwarfism, insufficiently points to the role of pericardial constriction. ...
The authors report the case of two siblings with a MU.LI.BR.EY syndrome. This acronym standing for a singular type of recessive au