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A non-enzymatic function of 17β-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.
- Published in:
- EMBO Molecular Medicine, 2010, v. 2, n. 2, p. 51, doi. 10.1002/emmm.200900055
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- Publication type:
- Article
Genetic basis of hyperlysinemia.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-57
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- Publication type:
- Article
Genetic basis of hyperlysinemia.
- Published in:
- 2013
- By:
- Publication type:
- journal article
HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3162, doi. 10.1002/ajmg.a.36766
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- Publication type:
- Article
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2609, doi. 10.1002/ajmg.a.34325
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- Publication type:
- Article
Impaired ketone body utilisation as a cause of life-threatening ketoacidosis.
- Published in:
- 2022
- By:
- Publication type:
- Letter
Amino Acids Regulate Transgene Expression in MDCK Cells.
- Published in:
- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0096823
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- Publication type:
- Article
Acylpeptide hydrolase (APEH) sequence variants with potential impact on the metabolism of the antiepileptic drug valproic acid.
- Published in:
- Metabolic Brain Disease, 2019, v. 34, n. 6, p. 1629, doi. 10.1007/s11011-019-00470-9
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- Publication type:
- Article
NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism.
- Published in:
- NMR in Biomedicine, 2008, v. 21, n. 2, p. 138, doi. 10.1002/nbm.1170
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- Publication type:
- Article
Biological effects and metabolism of 9-cis-retinoic acid and its metabolite 9,13-di-cis-retinoic acid in HaCaT keratinocytes in vitro: comparison with all-trans-retinoic acid.
- Published in:
- Archives of Dermatological Research, 2000, v. 292, n. 12, p. 612, doi. 10.1007/s004030000189
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- Publication type:
- Article
Changes in plasma amino acid concentrations with increasing age in patients with propionic acidemia.
- Published in:
- Amino Acids, 2010, v. 38, n. 5, p. 1473, doi. 10.1007/s00726-009-0356-2
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- Publication type:
- Article
Complications in early diagnosis and treatment of two infants with long-chain fatty acid beta-oxidation defects.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3).
- Published in:
- Human Genetics, 2009, v. 125, n. 5/6, p. 581, doi. 10.1007/s00439-009-0653-6
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- Publication type:
- Article
Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation.
- Published in:
- 2004
- By:
- Publication type:
- Directory
Screening for hypophosphatasia: does biochemistry lead the way?
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 2, p. 169, doi. 10.1515/jpem-2021-0104
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- Publication type:
- Article
When one disease is not enough: succinyl-CoA: 3-oxoacid coenzyme A transferase (SCOT) deficiency due to a novel mutation in OXCT1 in an infant with known phenylketonuria.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 10, p. 1121, doi. 10.1515/jpem-2017-0177
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- Publication type:
- Article
Amino Acids and Inherited Amino Acid-Related Disorders.
- Published in:
- Journal of Nutrition & Metabolism, 2018, p. 1, doi. 10.1155/2018/5629454
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- Publication type:
- Article
New approaches towards laboratory diagnosis of isolated sulphite oxidase deficiency.
- Published in:
- Annals of Clinical Biochemistry, 2004, v. 41, n. 2, p. 157, doi. 10.1258/000456304322880078
- By:
- Publication type:
- Article
Correction to: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces.
- Published in:
- 2022
- By:
- Publication type:
- Journal Article
Functional redundancy of mitochondrial enoyl-CoA isomerases in the oxidation of unsaturated fatty acids.
- Published in:
- FASEB Journal, 2012, v. 26, n. 10, p. 4316, doi. 10.1096/fj.12-206326
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- Publication type:
- Article
Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis.
- Published in:
- Turkish Journal of Pediatrics, 2017, v. 59, n. 4, p. 471, doi. 10.24953/turkjped.2017.04.016
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- Publication type:
- Article
Diurnal variation of phenylalanine and tyrosine concentrations in adult patients with phenylketonuria: subcutaneous microdialysis is no adequate tool for the determination of amino acid concentrations.
- Published in:
- Nutrition Journal, 2013, v. 12, p. 1, doi. 10.1186/1475-2891-12-60
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- Publication type:
- Article
Diurnal variation of phenylalanine and tyrosine concentrations in adult patients with phenylketonuria: subcutaneous microdialysis is no adequate tool for the determination of amino acid concentrations.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site.
- Published in:
- Molecular Medicine Reports, 2016, v. 14, n. 5, p. 4906, doi. 10.3892/mmr.2016.5819
- By:
- Publication type:
- Article
2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways.
- Published in:
- 2020
- By:
- Publication type:
- journal article
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces.
- Published in:
- 2020
- By:
- Publication type:
- journal article
An Autosomal-Recessive Form of Cutis Laxa Is Due to Homozygous Elastin Mutations, and the Phenotype May Be Modified by a Heterozygous Fibulin 5 Polymorphism.
- Published in:
- Journal of Investigative Dermatology, 2009, v. 129, n. 7, p. 1650, doi. 10.1038/jid.2008.450
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- Publication type:
- Article
Retinoid Signaling by all-trans Retinoic Acid and all-trans Retinoyl-β-D-Glucuronide Is Attenuated by Simultaneous Exposure of Human Keratinocytes to Retinol.
- Published in:
- Journal of Investigative Dermatology, 1999, v. 112, n. 2, p. 157, doi. 10.1046/j.1523-1747.1999.00496.x
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- Publication type:
- Article
Topical Retinaldehyde Increases Skin Content of Retinoic Acid and Exerts Biologic Activity in Mouse Skin.
- Published in:
- Journal of Investigative Dermatology, 1996, v. 107, n. 5, p. 714, doi. 10.1111/1523-1747.ep12365603
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- Publication type:
- Article
Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies.
- Published in:
- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 598, doi. 10.1002/jimd.12730
- By:
- Publication type:
- Article
In memoriam Willy Lehnert.
- Published in:
- 2023
- By:
- Publication type:
- Obituary
3‐Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D‐ and L‐3‐Hydroxyisobutyric acid by an LC–MS/MS method.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 445, doi. 10.1002/jimd.12486
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- Publication type:
- Article
Biomarkers for drug development in propionic and methylmalonic acidemias.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 132, doi. 10.1002/jimd.12478
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- Publication type:
- Article
3‐Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency—A novel disorder of valine metabolism.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1323, doi. 10.1002/jimd.12410
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- Publication type:
- Article
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 566, doi. 10.1002/jimd.12370
- By:
- Publication type:
- Article
Toshiyuki Fukao.
- Published in:
- 2020
- By:
- Publication type:
- Obituary
A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 2, p. 187, doi. 10.1007/s10545-018-0138-7
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- Publication type:
- Article
Disorders of the degradation of branched chain amino acids: What is new in clinics and laboratories?
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 1, doi. 10.1007/s10545-011-9420-7
- By:
- Publication type:
- Article
Aminoacylase 1 deficiency associated with autistic behavior.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 211, doi. 10.1007/s10545-010-9089-3
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- Publication type:
- Article
Plasma concentrations and renal clearance of orotic acid in argininosuccinic acid synthetase deficiency.
- Published in:
- Pediatric Nephrology, 1999, v. 13, n. 9, p. 912, doi. 10.1007/s004670050726
- By:
- Publication type:
- Article
D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase ( GLYCTK).
- Published in:
- Human Mutation, 2010, v. 31, n. 12, p. 1280, doi. 10.1002/humu.21375
- By:
- Publication type:
- Article
Two Siblings with Beta-Ketothiolase Deficiency: One Genetic Defect Two Different Pictures.
- Published in:
- Journal of Pediatric Research, 2016, v. 3, n. 2, p. 113, doi. 10.4274/jpr.25338
- By:
- Publication type:
- Article
Tekrarlayan ketoasidoz atakları: Keton metabolizma bozuklukluğu olabilir mi?
- Published in:
- Journal of Dr. Behcet Uz Children's Hospital, 2018, v. 8, n. 2, p. 115, doi. 10.5222/buchd.2018.115
- By:
- Publication type:
- Article
Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 12, p. 1249, doi. 10.1093/hmg/ddh136
- By:
- Publication type:
- Article
Identification of novel mutations in the PCCB gene in European propionic acidemia patients.
- Published in:
- Human Mutation, 1999, v. 14, n. 1, p. 89, doi. 10.1002/(SICI)1098-1004(1999)14:1<89::AID-HUMU18>3.0.CO;2-5
- By:
- Publication type:
- Article