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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1946 6
1947 2
1948 5
1949 4
1950 6
1951 5
1952 1
1953 2
1954 4
1955 6
1956 5
1957 4
1958 4
1959 4
1960 4
1961 3
1962 14
1963 15
1964 33
1965 33
1966 44
1967 63
1968 84
1969 92
1970 106
1971 131
1972 124
1973 132
1974 206
1975 301
1976 354
1977 322
1978 319
1979 375
1980 368
1981 382
1982 453
1983 493
1984 600
1985 645
1986 626
1987 582
1988 705
1989 805
1990 865
1991 874
1992 1019
1993 1102
1994 1212
1995 1167
1996 1183
1997 1341
1998 1406
1999 1495
2000 1543
2001 1569
2002 1770
2003 1868
2004 1969
2005 2235
2006 2363
2007 2590
2008 2874
2009 2911
2010 3266
2011 3655
2012 3839
2013 4321
2014 4618
2015 4603
2016 4826
2017 5175
2018 5304
2019 5485
2020 5853
2021 5967
2022 5686
2023 4857
2024 2115

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97,706 results

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Quoted phrase not found in phrase index: "Congenital or early infantile CACH syndrome"
Page 1
Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access.
Fumagalli F, Calbi V, Natali Sora MG, Sessa M, Baldoli C, Rancoita PMV, Ciotti F, Sarzana M, Fraschini M, Zambon AA, Acquati S, Redaelli D, Attanasio V, Miglietta S, De Mattia F, Barzaghi F, Ferrua F, Migliavacca M, Tucci F, Gallo V, Del Carro U, Canale S, Spiga I, Lorioli L, Recupero S, Fratini ES, Morena F, Silvani P, Calvi MR, Facchini M, Locatelli S, Corti A, Zancan S, Antonioli G, Farinelli G, Gabaldo M, Garcia-Segovia J, Schwab LC, Downey GF, Filippi M, Cicalese MP, Martino S, Di Serio C, Ciceri F, Bernardo ME, Naldini L, Biffi A, Aiuti A. Fumagalli F, et al. Lancet. 2022 Jan 22;399(10322):372-383. doi: 10.1016/S0140-6736(21)02017-1. Lancet. 2022. PMID: 35065785 Free PMC article. Clinical Trial.
ARSA activity in PBMCs was significantly increased above baseline 2 years after treatment by a mean 18.7-fold (95% CI 8.3-42.2; p<0.0001) in patients with the late-infantile variant and 5.7-fold (2.6-12.4; p<0.0001) in patients with the early-juvenile variant. …
ARSA activity in PBMCs was significantly increased above baseline 2 years after treatment by a mean 18.7-fold (95% CI 8.3-42.2; p<0.0001) …
Human cytomegalovirus labyrinthitis.
Strauss M. Strauss M. Am J Otolaryngol. 1990 Sep-Oct;11(5):292-8. doi: 10.1016/0196-0709(90)90057-3. Am J Otolaryngol. 1990. PMID: 2176062 Review.
Human cytomegalovirus infection was first recognized in its congenital disseminated form and, subsequently, in a subclinical form. ...Vestibular dysfunction is less well characterized. The long-term sequelae may include Meniere's syndrome. Acquired HCMV infection in …
Human cytomegalovirus infection was first recognized in its congenital disseminated form and, subsequently, in a subclinical form. .. …
Congenital cytomegalovirus infection.
Leung AK, Sauve RS, Davies HD. Leung AK, et al. J Natl Med Assoc. 2003 Mar;95(3):213-8. J Natl Med Assoc. 2003. PMID: 12749681 Free PMC article. Review.
Cytomegalovirus (CMV) is the most common congenital infection in humans. Congenital CMV infection can follow either a primary or recurrent maternal infection, but the likelihood of fetal infection and the risk of associated damage is higher after a primary infection …
Cytomegalovirus (CMV) is the most common congenital infection in humans. Congenital CMV infection can follow either a primary …
Newborn screening for Krabbe's disease.
Orsini JJ, Saavedra-Matiz CA, Gelb MH, Caggana M. Orsini JJ, et al. J Neurosci Res. 2016 Nov;94(11):1063-75. doi: 10.1002/jnr.23781. J Neurosci Res. 2016. PMID: 27638592 Free PMC article. Review.
As of August 7, 2015, nearly 2.5 million infants had been screened, and 443 (0.018%) infants had been referred for followup clinical evaluation; only five infants had been determined to have KD. As of August, 2015, the combined incidence of infantile KD in New York and Mis …
As of August 7, 2015, nearly 2.5 million infants had been screened, and 443 (0.018%) infants had been referred for followup clinical evaluat …
The peroxisome and the eye.
Folz SJ, Trobe JD. Folz SJ, et al. Surv Ophthalmol. 1991 Mar-Apr;35(5):353-68. doi: 10.1016/0039-6257(91)90185-i. Surv Ophthalmol. 1991. PMID: 1710072 Free article. Review.
Zellweger syndrome, the most lethal of the three peroxisomal biogenesis disorders, causes infantile hypotonia, seizures, and death within the first year. Ophthalmic manifestations include corneal opacification, cataract, glaucoma, pigmentary retinopathy and optic at …
Zellweger syndrome, the most lethal of the three peroxisomal biogenesis disorders, causes infantile hypotonia, seizures, and d …
Cytomegalovirus infection.
Brown HL, Abernathy MP. Brown HL, et al. Semin Perinatol. 1998 Aug;22(4):260-6. doi: 10.1016/s0146-0005(98)80014-1. Semin Perinatol. 1998. PMID: 9738990 Review.
Forty percent to 50% of infants delivered to mothers with primary CMV will have congenital infections. Of these, 5% to 18% will be overtly symptomatic at birth. The mortality rate in these children is almost 30%; approximately 80% of the survivors have severe neurological …
Forty percent to 50% of infants delivered to mothers with primary CMV will have congenital infections. Of these, 5% to 18% will be ov …
Audiovestibular consequences of congenital cytomegalovirus infection.
Teissier N, Bernard S, Quesnel S, Van Den Abbeele T. Teissier N, et al. Eur Ann Otorhinolaryngol Head Neck Dis. 2016 Dec;133(6):413-418. doi: 10.1016/j.anorl.2016.03.004. Epub 2016 Apr 7. Eur Ann Otorhinolaryngol Head Neck Dis. 2016. PMID: 27067701 Free article. Review.
Congenital cytomegalovirus (CMV) infection is the second most frequent cause of mental retardation and sensorineural hearing loss, after genetic factors. ...This article reviews recent data concerning audiovestibular sequelae and their management in children congenitall …
Congenital cytomegalovirus (CMV) infection is the second most frequent cause of mental retardation and sensorineural hearing loss, af …
Congenitally corrected transposition: not correct at all.
DeWeert KJ, Lancaster T, Dorfman AL. DeWeert KJ, et al. Curr Opin Cardiol. 2023 Jul 1;38(4):358-363. doi: 10.1097/HCO.0000000000001052. Epub 2023 Mar 28. Curr Opin Cardiol. 2023. PMID: 37016955 Review.
PURPOSE OF REVIEW: Congenitally corrected transposition of the great arteries is a rare congenital defect with several management options. ...These complex operations are predominantly performed at a small subset of congenital heart surgery centers. SUMMARY: …
PURPOSE OF REVIEW: Congenitally corrected transposition of the great arteries is a rare congenital defect with several managem …
Cytomegalovirus infection in pregnancy.
Doerr HW. Doerr HW. J Virol Methods. 1987 Aug;17(1-2):127-32. doi: 10.1016/0166-0934(87)90075-9. J Virol Methods. 1987. PMID: 2822748 Review.
Cytomegalovirus (CMV) is the most common agent of prenatal (peri- and early postnatal) infection of the newborn with an incidence of 0.2-2.0% (5-10%) depending on the socio-economic status. Only one out of 20 congenitally CMV-infected newborns shows serious symptoms …
Cytomegalovirus (CMV) is the most common agent of prenatal (peri- and early postnatal) infection of the newborn with an incidence of …
Ethical issues with testing and treatment for Krabbe disease.
Ehmann P, Lantos JD. Ehmann P, et al. Dev Med Child Neurol. 2019 Dec;61(12):1358-1361. doi: 10.1111/dmcn.14258. Epub 2019 May 15. Dev Med Child Neurol. 2019. PMID: 31090922 Free article. Review.
Early-infantile Krabbe disease (EIKD) is an autosomal recessive, progressive, neurodegenerative disorder that usually leads to death in infancy. ...WHAT THIS PAPER ADDS: Current tests to identify which children are likely to develop Krabbe diseased are inadequate. M …
Early-infantile Krabbe disease (EIKD) is an autosomal recessive, progressive, neurodegenerative disorder that usually leads to …
97,706 results
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