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

Year Number of Results
1974 1
1976 1
1977 1
1978 3
1979 2
1980 2
1981 1
1982 3
1983 1
1985 3
1986 1
1988 3
1989 6
1990 4
1991 5
1992 4
1993 2
1994 9
1995 11
1996 5
1997 8
1998 7
1999 17
2000 21
2001 13
2002 21
2003 22
2004 34
2005 19
2006 35
2007 23
2008 41
2009 40
2010 46
2011 46
2012 56
2013 66
2014 60
2015 40
2016 54
2017 75
2018 75
2019 63
2020 66
2021 58
2022 51
2023 43
2024 23

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1,056 results

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Quoted phrase not found in phrase index: "Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive"
Page 1
Congenital adrenal hyperplasia.
El-Maouche D, Arlt W, Merke DP. El-Maouche D, et al. Lancet. 2017 Nov 11;390(10108):2194-2210. doi: 10.1016/S0140-6736(17)31431-9. Epub 2017 May 30. Lancet. 2017. PMID: 28576284 Review.
Congenital adrenal hyperplasia is a group of autosomal recessive disorders encompassing enzyme deficiencies in the adrenal steroidogenesis pathway that lead to impaired cortisol biosynthesis. Depending on the type and severity of steroid block, patients can h …
Congenital adrenal hyperplasia is a group of autosomal recessive disorders encompassing enzyme deficiencies in the adrenal ste …
Effects of a core stability exercise program on balance and coordination in children with cerebellar ataxic cerebral palsy.
Elshafey MA, Abdrabo MS, Elnaggar RK. Elshafey MA, et al. J Musculoskelet Neuronal Interact. 2022 Jun 1;22(2):172-178. J Musculoskelet Neuronal Interact. 2022. PMID: 35642697 Free PMC article. Clinical Trial.
OBJECTIVE: To evaluate the effects of a core stability exercise program on balance, coordination, and severity of ataxia in children with cerebellar ataxic cerebral palsy (CP). METHODS: Forty children with cerebellar ataxic CP (mean age: 6.751.35 years) were randomly …
OBJECTIVE: To evaluate the effects of a core stability exercise program on balance, coordination, and severity of ataxia in children …
Severe congenital neutropenias.
Skokowa J, Dale DC, Touw IP, Zeidler C, Welte K. Skokowa J, et al. Nat Rev Dis Primers. 2017 Jun 8;3:17032. doi: 10.1038/nrdp.2017.32. Nat Rev Dis Primers. 2017. PMID: 28593997 Free PMC article. Review.
Patients with severe congenital neutropenia are prone to recurrent, often life-threatening infections beginning in their first months of life. The most frequent pathogenic defects are autosomal dominant mutations in ELANE, which encodes neutrophil elastase, and a …
Patients with severe congenital neutropenia are prone to recurrent, often life-threatening infections beginning in their first months …
AAV1-hOTOF gene therapy for autosomal recessive deafness 9: a single-arm trial.
Lv J, Wang H, Cheng X, Chen Y, Wang D, Zhang L, Cao Q, Tang H, Hu S, Gao K, Xun M, Wang J, Wang Z, Zhu B, Cui C, Gao Z, Guo L, Yu S, Jiang L, Yin Y, Zhang J, Chen B, Wang W, Chai R, Chen ZY, Li H, Shu Y. Lv J, et al. Lancet. 2024 May 25;403(10441):2317-2325. doi: 10.1016/S0140-6736(23)02874-X. Epub 2024 Jan 24. Lancet. 2024. PMID: 38280389 Clinical Trial.
BACKGROUND: Autosomal recessive deafness 9, caused by mutations of the OTOF gene, is characterised by congenital or prelingual, severe-to-complete, bilateral hearing loss. ...All analyses were done according to the intention-to-treat principle. This trial …
BACKGROUND: Autosomal recessive deafness 9, caused by mutations of the OTOF gene, is characterised by congenital or prelingual …
Spinal muscular atrophy.
Lunn MR, Wang CH. Lunn MR, et al. Lancet. 2008 Jun 21;371(9630):2120-33. doi: 10.1016/S0140-6736(08)60921-6. Lancet. 2008. PMID: 18572081 Review.
Spinal muscular atrophy is an autosomal recessive neurodegenerative disease characterised by degeneration of spinal cord motor neurons, atrophy of skeletal muscles, and generalised weakness. ...In this Seminar, we provide a comprehensive review that integrate …
Spinal muscular atrophy is an autosomal recessive neurodegenerative disease characterised by degeneration of spinal cord motor …
Familial hypercholesterolemia--epidemiology, diagnosis, and screening.
Singh S, Bittner V. Singh S, et al. Curr Atheroscler Rep. 2015;17(2):482. doi: 10.1007/s11883-014-0482-5. Curr Atheroscler Rep. 2015. PMID: 25612857 Review.
In most cases, inheritance is autosomal co-dominant with homozygotes having double the LDL cholesterol levels of heterozygotes. Autosomal recessive inheritance is rare. The prevalence of the heterozygous state has been estimated at 1 in 200 to 1 in 500 and of …
In most cases, inheritance is autosomal co-dominant with homozygotes having double the LDL cholesterol levels of heterozygotes. Au …
Advances in diagnosis and management of Pompe disease.
Davison JE. Davison JE. J Mother Child. 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. J Mother Child. 2020. PMID: 33554498 Free PMC article. Review.
Pompe disease is an autosomal recessive lysosomal glycogen storage disorder caused by the deficiency of acid alpha-glucosidase and subsequent progressive glycogen accumulation due to mutations in the GAA gene. Pompe disease manifests with a broad spectrum of disease …
Pompe disease is an autosomal recessive lysosomal glycogen storage disorder caused by the deficiency of acid alpha-glucosidase …
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Pipis M, Feely SME, Polke JM, Skorupinska M, Perez L, Shy RR, Laura M, Morrow JM, Moroni I, Pisciotta C, Taroni F, Vujovic D, Lloyd TE, Acsadi G, Yum SW, Lewis RA, Finkel RS, Herrmann DN, Day JW, Li J, Saporta M, Sadjadi R, Walk D, Burns J, Muntoni F, Ramchandren S, Horvath R, Johnson NE, Züchner S, Pareyson D, Scherer SS, Rossor AM, Shy ME, Reilly MM; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN). Pipis M, et al. Brain. 2020 Dec 1;143(12):3589-3602. doi: 10.1093/brain/awaa323. Brain. 2020. PMID: 33415332 Free PMC article.
In this large multicentre prospective cohort study of 196 patients with dominant and autosomal recessive CMT2A, we present an in-depth genotype-phenotype study of the baseline characteristics of patients with CMT2A and longitudinal data (1-2 years) to describ …
In this large multicentre prospective cohort study of 196 patients with dominant and autosomal recessive CMT2A, we present an …
Molybdenum cofactor deficiency.
Atwal PS, Scaglia F. Atwal PS, et al. Mol Genet Metab. 2016 Jan;117(1):1-4. doi: 10.1016/j.ymgme.2015.11.010. Epub 2015 Nov 25. Mol Genet Metab. 2016. PMID: 26653176 Review.
Molybdenum cofactor deficiency (MoCD) is a severe autosomal recessive inborn error of metabolism first described in 1978. It is characterized by a neonatal presentation of intractable seizures, feeding difficulties, severe developmental delay, microcep …
Molybdenum cofactor deficiency (MoCD) is a severe autosomal recessive inborn error of metabolism first described in 197 …
Alpha1-antitrypsin deficiency: An updated review.
Mornex JF, Traclet J, Guillaud O, Dechomet M, Lombard C, Ruiz M, Revel D, Reix P, Cottin V. Mornex JF, et al. Presse Med. 2023 Sep;52(3):104170. doi: 10.1016/j.lpm.2023.104170. Epub 2023 Jul 29. Presse Med. 2023. PMID: 37517655 Review.
Clinical expression of AATD, reported 60 years ago associate a severe deficiency, pulmonary emphysema and/or liver fibrosis. ...Based on a randomized clinical trial, augmentation therapy is indicated in non-smoking adults less than 70 years of a …
Clinical expression of AATD, reported 60 years ago associate a severe deficiency, pulmonary emphysema and/or liver fibrosis. . …
1,056 results