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Journal of Inherited Metabolic Disease|January 9, 2009
Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-upK Kusmierska, E E W Jansen, C Jakobs, et al.
Clinical Genetics|December 16, 2017
A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopaK Szczałuba, K Szymańska, M Rydzanicz, et al.
Clinical Genetics|September 29, 2009
SURF1 missense mutations promote a mild Leigh phenotypeD Piekutowska-Abramczuk, M Magner, E Popowska, et al.
Human Mutation|September 12, 2000
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)E Schollen, L Dorland, T J de Koning, et al.
Clinical Genetics|July 9, 2013
Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathyD Piekutowska-Abramczuk, M Pronicki, K Strawa, et al.
Pediatric Research|February 1, 1997
A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evolutionary considerationK Tanaka, N Gregersen, A Ribes, et al.
Clinical Genetics|November 1, 1996
Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutationO P van Diggelen, J Zaremba, W He, et al.
Molecular Genetics and Metabolism Reports|May 5, 2016
Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencingE Ciara, D Rokicki, P Halat, et al.
Molecular Genetics and Metabolism|October 3, 2002
Seventeen novel mutations that cause profound biotinidase deficiencyB Wolf, K Jensen, G Hüner, et al.
Human Molecular Genetics|April 1, 1997
Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP)P S Rowe, C L Oudet, F Francis, et al.
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