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

Year Number of Results
1945 1
1946 5
1947 5
1948 3
1949 5
1950 10
1951 5
1952 4
1953 4
1954 5
1955 7
1956 5
1957 13
1958 13
1959 7
1960 7
1961 6
1962 8
1963 14
1964 11
1965 17
1966 18
1967 19
1968 6
1969 23
1970 14
1971 20
1972 19
1973 26
1974 33
1975 175
1976 178
1977 157
1978 144
1979 172
1980 210
1981 193
1982 205
1983 242
1984 270
1985 308
1986 270
1987 274
1988 297
1989 350
1990 373
1991 382
1992 475
1993 468
1994 537
1995 540
1996 604
1997 635
1998 651
1999 690
2000 698
2001 727
2002 825
2003 890
2004 886
2005 1027
2006 1081
2007 1219
2008 1381
2009 1467
2010 1608
2011 1820
2012 1998
2013 2199
2014 2391
2015 2512
2016 2578
2017 2762
2018 2844
2019 2952
2020 3202
2021 3297
2022 3144
2023 2751
2024 1180

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49,280 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) …
Paediatric hip ultrasound.
Donnan M, Anderson N, Hoq M, Donnan L. Donnan M, et al. Bone Joint J. 2023 Oct 1;105-B(10):1123-1130. doi: 10.1302/0301-620X.105B10.BJJ-2023-0143.R1. Bone Joint J. 2023. PMID: 37777201
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.
It also includes updated results from screening and discussion of observations, lessons learned, and suggested areas for improvement that will reduce referral rates and the number of infants defined as at risk for later-onset forms of KD. Although current treatment options …
It also includes updated results from screening and discussion of observations, lessons learned, and suggested areas for improvement …
Universal newborn hearing screening.
Wrightson AS. Wrightson AS. Am Fam Physician. 2007 May 1;75(9):1349-52. Am Fam Physician. 2007. PMID: 17508530 Free article. Review.
Congenital hearing loss is estimated to affect one in every 1,000 newborns. Causes of hearing loss can be conductive, sensorineural, mixed, or central. Known risk factors for congenital hearing loss include cytomegalovirus infection and premature birth necessitating …
Congenital hearing loss is estimated to affect one in every 1,000 newborns. Causes of hearing loss can be conductive, sensorineural, …
AGC1 Deficiency: Pathology and Molecular and Cellular Mechanisms of the Disease.
Pardo B, Herrada-Soler E, Satrústegui J, Contreras L, Del Arco A. Pardo B, et al. Int J Mol Sci. 2022 Jan 4;23(1):528. doi: 10.3390/ijms23010528. Int J Mol Sci. 2022. PMID: 35008954 Free PMC article. Review.
The deficiency in AGC1/Aralar leads to the human rare disease named "early infantile epileptic encephalopathy 39" (EIEE 39, OMIM # 612949) characterized by epilepsy, hypotonia, arrested psychomotor neurodevelopment, hypo myelination and a drastic drop in brain aspar …
The deficiency in AGC1/Aralar leads to the human rare disease named "early infantile epileptic encephalopathy 39" (EIEE 39, OM …
Alexander's disease: reassessment of a neonatal form.
Singh N, Bixby C, Etienne D, Tubbs RS, Loukas M. Singh N, et al. Childs Nerv Syst. 2012 Dec;28(12):2029-31. doi: 10.1007/s00381-012-1868-8. Epub 2012 Aug 14. Childs Nerv Syst. 2012. PMID: 22890470 Review.
INTRODUCTION: Alexander disease is a disorder caused by a mutation and accumulation of the glial fibrillary acidic protein. Currently, three subtypes are acknowledged: an infantile, a juvenile, and an adult form. However, onset early in infancy or in the prenatal pe …
INTRODUCTION: Alexander disease is a disorder caused by a mutation and accumulation of the glial fibrillary acidic protein. Currently, three …
Quantification of systemic right ventricle by echocardiography.
Iriart X, Roubertie F, Jalal Z, Thambo JB. Iriart X, et al. Arch Cardiovasc Dis. 2016 Feb;109(2):120-7. doi: 10.1016/j.acvd.2015.11.008. Epub 2016 Feb 2. Arch Cardiovasc Dis. 2016. PMID: 26850171 Free article. Review.
Improvements in cardiac imaging have recently focused a great interest on the right ventricle (RV). In patients with congenital heart disease, the right ventricle (RV) may support the systemic circulation (systemic RV). There are 2 different anatomic conditions providing s …
Improvements in cardiac imaging have recently focused a great interest on the right ventricle (RV). In patients with congenital heart …
Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases.
Komatsuzaki S, Zielonka M, Mountford WK, Kölker S, Hoffmann GF, Garbade SF, Ries M. Komatsuzaki S, et al. Genet Med. 2019 Oct;21(10):2208-2215. doi: 10.1038/s41436-019-0480-7. Epub 2019 Mar 22. Genet Med. 2019. PMID: 30899093 Free article. Review.
METHODS: We performed a quantitative analysis of published cases (N = 248) with Krabbe disease, stratified by age at disease onset: early infantile (age 0-6 months), late infantile (age 7-36 months), juvenile/adolescent (age 37-180 months), and adult onset (& …
METHODS: We performed a quantitative analysis of published cases (N = 248) with Krabbe disease, stratified by age at disease onset: early …
Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy.
Schoenmakers DH, Beerepoot S, Krägeloh-Mann I, Elgün S, Bender B, van der Knaap MS, Wolf NI, Groeschel S. Schoenmakers DH, et al. Ann Clin Transl Neurol. 2022 Dec;9(12):1999-2009. doi: 10.1002/acn3.51692. Epub 2022 Nov 5. Ann Clin Transl Neurol. 2022. PMID: 36334091 Free PMC article.
RESULTS: We included 104 brain MRIs from patients with late-infantile (n = 43), early-juvenile (n = 24), late-juvenile (n = 20) and adult (n = 17) onset. Involvement of the corpus callosum was a characteristic early MRI sign and was present in 71% of the symp …
RESULTS: We included 104 brain MRIs from patients with late-infantile (n = 43), early-juvenile (n = 24), late-juvenile (n = 20 …
Development and initial validation of the Classification of Early-Onset Scoliosis (C-EOS).
Williams BA, Matsumoto H, McCalla DJ, Akbarnia BA, Blakemore LC, Betz RR, Flynn JM, Johnston CE, McCarthy RE, Roye DP Jr, Skaggs DL, Smith JT, Snyder BD, Sponseller PD, Sturm PF, Thompson GH, Yazici M, Vitale MG. Williams BA, et al. J Bone Joint Surg Am. 2014 Aug 20;96(16):1359-67. doi: 10.2106/JBJS.M.00253. J Bone Joint Surg Am. 2014. PMID: 25143496
BACKGROUND: Early-onset scoliosis is a heterogeneous condition, with highly variable manifestations and natural history. ...RESULTS: Nominal group technique was used to identify three core variables (major curve angle, etiology, and kyphosis) with high group content validi …
BACKGROUND: Early-onset scoliosis is a heterogeneous condition, with highly variable manifestations and natural history. ...RESULTS: …
49,280 results
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