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1985 2
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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. If left untreated, PKU results in increased phenylalanine concentrations …
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme ph …
Assessing Utility of Clinical Exome Sequencing in Diagnosis of Rare Idiopathic Neurodevelopmental Disorders in Indian Population.
Sheth H, Pancholi D, Bhavsar R, Mannan AU, Ganapathy A, Chowdhury M, Shah S, Solanki D, Sheth F, Sheth J. Sheth H, et al. Neurol India. 2021 Nov-Dec;69(6):1729-1736. doi: 10.4103/0028-3886.333475. Neurol India. 2021. PMID: 34979677 Free article.
MATERIALS AND METHODS: A cohort of 19 idiopathic patients with neurological phenotypes, primarily intellectual disability and developmental delay, were recruited. CES covering 4620 genes was performed on all patients. ...Fifteen variants were reported previously and …
MATERIALS AND METHODS: A cohort of 19 idiopathic patients with neurological phenotypes, primarily intellectual disability and …
A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis.
Mignarri A, Gallus GN, Dotti MT, Federico A. Mignarri A, et al. J Inherit Metab Dis. 2014 May;37(3):421-9. doi: 10.1007/s10545-013-9674-3. Epub 2014 Jan 18. J Inherit Metab Dis. 2014. PMID: 24442603
BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disorder characterized by a heterogeneous presentation and a broad spectrum of clinical manifestations. ...In our patients, age at diagnosis was 35.5 11.8 years (mean standard d …
BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disorder characterized by a heterogen …
Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics.
Matza Porges S, Mor-Shaked H, Shaag A, Porat S, Daum H. Matza Porges S, et al. Eur J Med Genet. 2023 Oct;66(10):104825. doi: 10.1016/j.ejmg.2023.104825. Epub 2023 Sep 1. Eur J Med Genet. 2023. PMID: 37659595
Biallelic pathogenic variants in this gene cause alopecia-intellectual disability type 4 syndrome (APMR4, MIM 618840), a rare autosomal recessive disorder. ...Two of his siblings from the same parents also harbored these variants. Both siblings had alo …
Biallelic pathogenic variants in this gene cause alopecia-intellectual disability type 4 syndrome (APMR4, MIM 618840), a rare …
Seven hereditary syndromes with pigmentary retinopathy. A review and differential diagnosis.
Cantani A, Bellioni P, Bamonte G, Salvinelli F, Bamonte MT. Cantani A, et al. Clin Pediatr (Phila). 1985 Oct;24(10):578-83. doi: 10.1177/000992288502401006. Clin Pediatr (Phila). 1985. PMID: 3896611 Review.
This article reviews several autosomal recessive syndromes characterized by pigmentary retinopathy and, in many, combined with deafness, hypogonadism, and/or mental retardation. ...
This article reviews several autosomal recessive syndromes characterized by pigmentary retinopathy and, in many, combined with …
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.
Matern D, He M, Berry SA, Rinaldo P, Whitley CB, Madsen PP, van Calcar SC, Lussky RC, Andresen BS, Wolff JA, Vockley J. Matern D, et al. Pediatrics. 2003 Jul;112(1 Pt 1):74-8. doi: 10.1542/peds.112.1.74. Pediatrics. 2003. PMID: 12837870 Review.
OBJECTIVE: 2-methylbutyryl-CoA dehydrogenase deficiency, also known as short/branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency, is a recently described autosomal recessive disorder of L-isoleucine metabolism. Only 4 affected individuals in 2 families have bee …
OBJECTIVE: 2-methylbutyryl-CoA dehydrogenase deficiency, also known as short/branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency, is a …
Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
van Gassen KL, van der Heijden CD, de Bot ST, den Dunnen WF, van den Berg LH, Verschuuren-Bemelmans CC, Kremer HP, Veldink JH, Kamsteeg EJ, Scheffer H, van de Warrenburg BP. van Gassen KL, et al. Brain. 2012 Oct;135(Pt 10):2994-3004. doi: 10.1093/brain/aws224. Epub 2012 Sep 10. Brain. 2012. PMID: 22964162
Spastic paraplegia type 7 is an autosomal recessive neurodegenerative disorder mainly characterized by progressive bilateral lower limb spasticity and referred to as a form of hereditary spastic paraplegia. ...Other disease features encountered in this cohort includ …
Spastic paraplegia type 7 is an autosomal recessive neurodegenerative disorder mainly characterized by progressive bilateral l …
Method modification to reduce false positives for newborn screening of guanidinoacetate methyltransferase deficiency.
Wojcik M, Morrissey M, Borden K, Teta B, Sicko R, Showers A, Sunny S, Caggana M. Wojcik M, et al. Mol Genet Metab. 2022 Mar;135(3):186-192. doi: 10.1016/j.ymgme.2022.01.101. Epub 2022 Jan 26. Mol Genet Metab. 2022. PMID: 35120844
Lack of CRE in the brain can cause intellectual disability, autistic-like behavior, seizures, and movement disorders. Identification at birth and immediate therapy can prevent intellectual disability and seizures. If started early in life, treat …
Lack of CRE in the brain can cause intellectual disability, autistic-like behavior, seizures, and movement disorders. Identifi …
Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes.
Xie MJ, Cromie GA, Owens K, Timour MS, Tang M, Kutz JN, El-Hattab AW, McLaughlin RN Jr, Dudley AM. Xie MJ, et al. PLoS Genet. 2023 Oct 9;19(10):e1010972. doi: 10.1371/journal.pgen.1010972. eCollection 2023 Oct. PLoS Genet. 2023. PMID: 37812589 Free PMC article.
Reduced activity of the enzymes encoded by PHGDH, PSAT1, and PSPH causes a set of ultrarare, autosomal recessive diseases known as serine biosynthesis defects. These diseases present in a broad phenotypic spectrum: at the severe end is Neu-Laxova syndrome, in the in …
Reduced activity of the enzymes encoded by PHGDH, PSAT1, and PSPH causes a set of ultrarare, autosomal recessive diseases know …
Nuchal cysts syndromes: etiology, pathogenesis, and prenatal diagnosis.
Elejalde BR, de Elejalde MM, Leno J. Elejalde BR, et al. Am J Med Genet. 1985 Jul;21(3):417-32. doi: 10.1002/ajmg.1320210303. Am J Med Genet. 1985. PMID: 3161327
We examined 10 fetuses with nuchal cysts and compared the findings with 32 cases from the literature. Based on their characteristics, we propose that nuchal cysts are signs of four causally and pathogenetically different entities: cystic nuchal blebs present in otherwise n …
We examined 10 fetuses with nuchal cysts and compared the findings with 32 cases from the literature. Based on their characteristics, …
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