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

Year Number of Results
1945 2
1946 7
1947 20
1948 18
1949 25
1950 26
1951 24
1952 18
1953 22
1954 47
1955 35
1956 46
1957 33
1958 46
1959 56
1960 50
1961 62
1962 52
1963 85
1964 262
1965 262
1966 184
1967 203
1968 296
1969 327
1970 385
1971 455
1972 416
1973 447
1974 496
1975 573
1976 582
1977 618
1978 577
1979 626
1980 613
1981 644
1982 733
1983 807
1984 848
1985 843
1986 897
1987 827
1988 851
1989 992
1990 1045
1991 1054
1992 1203
1993 1270
1994 1271
1995 1338
1996 1397
1997 1373
1998 1576
1999 1724
2000 1835
2001 1835
2002 1944
2003 2038
2004 2171
2005 2364
2006 2480
2007 2808
2008 3112
2009 3089
2010 3415
2011 3887
2012 4185
2013 4735
2014 5031
2015 4844
2016 4900
2017 4953
2018 4970
2019 5185
2020 5523
2021 5373
2022 5000
2023 4146
2024 1858

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107,939 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) …
Rubella.
Banatvala JE, Brown DW. Banatvala JE, et al. Lancet. 2004 Apr 3;363(9415):1127-37. doi: 10.1016/S0140-6736(04)15897-2. Lancet. 2004. PMID: 15064032 Review.
Maternal rubella is now rare in many developed countries that have rubella vaccination programmes. However, in many developing countries congenital rubella syndrome (CRS) remains a major cause of developmental anomalies, particularly blindness and deafness. ...Howev …
Maternal rubella is now rare in many developed countries that have rubella vaccination programmes. However, in many developing countries …
Clinical management of Krabbe disease.
Escolar ML, West T, Dallavecchia A, Poe MD, LaPoint K. Escolar ML, et al. J Neurosci Res. 2016 Nov;94(11):1118-25. doi: 10.1002/jnr.23891. J Neurosci Res. 2016. PMID: 27638597 Review.
Krabbe disease (KD) is a rare neurodegenerative disorder caused by mutations in the gene encoding the galactocerebrosidase enzyme. The early- and late-infantile subtypes, which are the most common forms of the disease, are rapidly progressive and lead to early …
Krabbe disease (KD) is a rare neurodegenerative disorder caused by mutations in the gene encoding the galactocerebrosidase enzyme. The ea …
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 …
Visual experience dependent plasticity in humans.
Röder B, Kekunnaya R. Röder B, et al. Curr Opin Neurobiol. 2021 Apr;67:155-162. doi: 10.1016/j.conb.2020.11.011. Epub 2020 Dec 16. Curr Opin Neurobiol. 2021. PMID: 33340877 Review.
While sensitive periods in brain development have often been studied by investigating the recovery of visual functions after a congenital phase of visual deprivation in non-human animals, research in humans who had recovered sight after a transient phase of congenital …
While sensitive periods in brain development have often been studied by investigating the recovery of visual functions after a congenital …
Congenital and Intrapartum SARS-CoV-2 Infection in Neonates: Hypotheses, Evidence and Perspectives.
Robaina-Castellanos GR, Riesgo-Rodríguez SC. Robaina-Castellanos GR, et al. MEDICC Rev. 2021 Jan;23(1):72-83. doi: 10.37757/MR2021.V23.N1.13. Epub 2021 Jan 30. MEDICC Rev. 2021. PMID: 33780426 Free article. Review.
CONCLUSIONS: Congenital and intrapartum SARS-CoV-2 infection in the fetus/newborn is possible, but rare. International collaborative studies using common epidemiological surveillance instruments would allow for a more precise specification of the frequency of congenital …
CONCLUSIONS: Congenital and intrapartum SARS-CoV-2 infection in the fetus/newborn is possible, but rare. International collaborative …
Neurocognitive development in congenitally deaf children.
Fitzpatrick E. Fitzpatrick E. Handb Clin Neurol. 2015;129:335-56. doi: 10.1016/B978-0-444-62630-1.00019-6. Handb Clin Neurol. 2015. PMID: 25726278 Review.
The chapter briefly describes recent advances in early hearing loss identification and intervention, including the impact of cochlear implant technology, and discusses how these have substantially changed and continue to change developmental outcomes for children with hear …
The chapter briefly describes recent advances in early hearing loss identification and intervention, including the impact of cochlear …
Congenitally corrected transposition.
Wallis GA, Debich-Spicer D, Anderson RH. Wallis GA, et al. Orphanet J Rare Dis. 2011 May 14;6:22. doi: 10.1186/1750-1172-6-22. Orphanet J Rare Dis. 2011. PMID: 21569592 Free PMC article. Review.
In the rare cases where there are no associated malformations, congenitally corrected transposition can lead to progressive atrioventricular valvar regurgitation and failure of the systemic ventricle. The diagnosis can also be made late in life when the patient presents wi …
In the rare cases where there are no associated malformations, congenitally corrected transposition can lead to progressive atriovent …
Congenital afibrinogenemia.
al-Mondhiry H, Ehmann WC. al-Mondhiry H, et al. Am J Hematol. 1994 Aug;46(4):343-7. doi: 10.1002/ajh.2830460416. Am J Hematol. 1994. PMID: 8037188 Review.
Congenital afibrinogenemia is a rare disorder with unusual clinical manifestations. ...Clinical manifestations range from minimal bleeding to catastrophic hemorrhage. Congenitally afibrinogenemic patients seem to be peculiarly susceptible to spontaneous rupture of t …
Congenital afibrinogenemia is a rare disorder with unusual clinical manifestations. ...Clinical manifestations range from minimal ble …
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 …
107,939 results
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