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

Year Number of Results
1975 1
1980 1
1983 1
1987 2
1989 4
1990 1
1991 2
1993 7
1994 1
1995 8
1996 6
1997 4
1998 4
1999 10
2000 15
2001 9
2002 13
2003 17
2004 12
2005 12
2006 11
2007 15
2008 17
2009 22
2010 20
2011 16
2012 31
2013 19
2014 26
2015 17
2016 19
2017 34
2018 31
2019 21
2020 37
2021 39
2022 42
2023 34
2024 14

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532 results

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Page 1
The complete European guidelines on phenylketonuria: diagnosis and treatment.
van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ. van Wegberg AMJ, et al. Orphanet J Rare Dis. 2017 Oct 12;12(1):162. doi: 10.1186/s13023-017-0685-2. Orphanet J Rare Dis. 2017. PMID: 29025426 Free PMC article. Review.
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. ...In addition, knowledge gaps are identified which require further resea …
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme ph …
Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.
Stamou MI, Georgopoulos NA. Stamou MI, et al. Metabolism. 2018 Sep;86:124-134. doi: 10.1016/j.metabol.2017.10.012. Epub 2017 Nov 3. Metabolism. 2018. PMID: 29108899 Free PMC article. Review.
Mutations in many different genes are able to explain ~40% of the causes of IGD, with the rest of cases remaining genetically uncharacterized. While most mutations are inherited in X-linked, autosomal dominant, or autosomal recessive pattern, several IGD gene …
Mutations in many different genes are able to explain ~40% of the causes of IGD, with the rest of cases remaining genetically uncharacterize …
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 Treatment of Spinal Muscular Atrophy - New Phenotypes, New Challenges, New Implications for Care.
Schorling DC, Pechmann A, Kirschner J. Schorling DC, et al. J Neuromuscul Dis. 2020;7(1):1-13. doi: 10.3233/JND-190424. J Neuromuscul Dis. 2020. PMID: 31707373 Free PMC article. Review.
Spinal Muscular Atrophy (SMA) is caused by autosomal recessive mutations in SMN1 and results in the loss of motor neurons and progressive muscle weakness. ...In this review we provide an overview of available and emerging therapies for spinal muscular atrophy …
Spinal Muscular Atrophy (SMA) is caused by autosomal recessive mutations in SMN1 and results in the loss of motor neurons and …
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. ...Targeted screening of at-risk populations and univers …
Pompe disease is an autosomal recessive lysosomal glycogen storage disorder caused by the deficiency of acid alpha-glucosidase …
Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment.
Whyte MP. Whyte MP. Nat Rev Endocrinol. 2016 Apr;12(4):233-46. doi: 10.1038/nrendo.2016.14. Epub 2016 Feb 19. Nat Rev Endocrinol. 2016. PMID: 26893260 Review.
Autosomal recessive or dominant inheritance from ~300 predominantly missense ALPL (also known as TNSALP) mutations largely accounts for the remarkably broad-ranging expressivity of hypophosphatasia. ...Now, significant successes for severely affected paediatr …
Autosomal recessive or dominant inheritance from ~300 predominantly missense ALPL (also known as TNSALP) mutations largely acc …
The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?
Weinreb NJ, Goker-Alpan O, Kishnani PS, Longo N, Burrow TA, Bernat JA, Gupta P, Henderson N, Pedro H, Prada CE, Vats D, Pathak RR, Wright E, Ficicioglu C. Weinreb NJ, et al. Mol Genet Metab. 2022 May;136(1):4-21. doi: 10.1016/j.ymgme.2022.03.001. Epub 2022 Mar 9. Mol Genet Metab. 2022. PMID: 35367141 Free article. Review.
Gaucher disease (GD) is an autosomal recessive inherited lysosomal storage disease that often presents in early childhood and is associated with damage to multiple organ systems. ...Phenotypic classification has traditionally been based on the absence (in type 1 GD) …
Gaucher disease (GD) is an autosomal recessive inherited lysosomal storage disease that often presents in early childhood and …
Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management.
Amirifar P, Ranjouri MR, Lavin M, Abolhassani H, Yazdani R, Aghamohammadi A. Amirifar P, et al. Expert Rev Clin Immunol. 2020 Sep;16(9):859-871. doi: 10.1080/1744666X.2020.1810570. Epub 2020 Oct 15. Expert Rev Clin Immunol. 2020. PMID: 32791865 Review.
INTRODUCTION: Ataxia-telangiectasia (A-T) is a rare autosomal recessive syndrome characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, variable immunodeficiency, radiosensitivity, and cancer predisposition. ...EXPERT OPINION: A-T as a congen …
INTRODUCTION: Ataxia-telangiectasia (A-T) is a rare autosomal recessive syndrome characterized by progressive cerebellar ataxi …
Infantile-onset Pompe disease: Diagnosis and management.
Bay LB, Denzler I, Durand C, Eiroa H, Frabasil J, Fainboim A, Maxit C, Schenone A, Spécola N. Bay LB, et al. Arch Argent Pediatr. 2019 Aug 1;117(4):271-278. doi: 10.5546/aap.2019.eng.271. Arch Argent Pediatr. 2019. PMID: 31339275 Free article. English, Spanish.
Pompe disease, also known as acid maltase deficiency or glycogenosis type II, is a rare severe, autosomal, recessive, and progressive genetic disorder caused by deficiency in alpha-glucosidase. ...Here we update the available clinical and diagnostic findings …
Pompe disease, also known as acid maltase deficiency or glycogenosis type II, is a rare severe, autosomal, recessive, a …
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
Wassenberg T, Molero-Luis M, Jeltsch K, Hoffmann GF, Assmann B, Blau N, Garcia-Cazorla A, Artuch R, Pons R, Pearson TS, Leuzzi V, Mastrangelo M, Pearl PL, Lee WT, Kurian MA, Heales S, Flint L, Verbeek M, Willemsen M, Opladen T. Wassenberg T, et al. Orphanet J Rare Dis. 2017 Jan 18;12(1):12. doi: 10.1186/s13023-016-0522-z. Orphanet J Rare Dis. 2017. PMID: 28100251 Free PMC article. Review.
Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, norepinephrine and epinephrine. ...Furthermore, we identified topics for further r …
Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder that leads to a …
532 results