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Atypical Glutaric Aciduria Type I with Hemidystonia and Asymmetric Radiological Findings Misdiagnosed as an Ischemic Stroke.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Intrafamilial Variability in LPIN1-Related Rhabdomyolysis.
- Published in:
- 2020
- By:
- Publication type:
- Abstract
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-148
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- Publication type:
- Article
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
- Published in:
- 2013
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- Publication type:
- journal article
Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?
- Published in:
- 2008
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- Publication type:
- journal article
Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?
- Published in:
- 2008
- By:
- Publication type:
- Case Study
Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 15, p. 8506, doi. 10.3390/ijms23158506
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- Publication type:
- Article
Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 9, p. 3109, doi. 10.3390/ijms21093109
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- Publication type:
- Article
Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria.
- Published in:
- 2017
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- Publication type:
- Case Study
Isolated kidney transplantation under lumasiran therapy in primary hyperoxaluria type 1: a report of five cases.
- Published in:
- Nephrology Dialysis Transplantation, 2023, v. 38, n. 2, p. 517, doi. 10.1093/ndt/gfac295
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- Publication type:
- Article
Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type.
- Published in:
- Kidney International, 2014, v. 86, n. 6, p. 1197, doi. 10.1038/ki.2014.222
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- Publication type:
- Article
Genotype–phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome.
- Published in:
- Kidney International, 2010, v. 77, n. 5, p. 443, doi. 10.1038/ki.2009.435
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- Publication type:
- Article
Recommandations concernant l'analyse de la chromatographie des acides aminés.
- Published in:
- Annales de Biologie Clinique, 2020, v. 78, n. 5, p. 555, doi. 10.1684/abc.2020.1585
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- Publication type:
- Article
Diagnostic biochimique des maladies héréditaires du métabolisme : profils métaboliques et difficultés de validation de méthode.
- Published in:
- 2020
- By:
- Publication type:
- Editorial
Recommandations concernant l'analyse des acides organiques urinaires.
- Published in:
- Annales de Biologie Clinique, 2020, v. 78, n. 5, p. 547, doi. 10.1684/abc.2020.1583
- By:
- Publication type:
- Article
Recommandations concernant l'analyse du profil des acylcarnitines.
- Published in:
- Annales de Biologie Clinique, 2020, v. 78, n. 5, p. 537, doi. 10.1684/abc.2020.1582
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- Publication type:
- Article
Subacute myopathy in a mature patient due to multiple acyl-coenzyme a dehydrogenase deficiency.
- Published in:
- Muscle & Nerve, 2011, v. 43, n. 3, p. 444, doi. 10.1002/mus.21881
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- Publication type:
- Article
Nephrocalcinosis can disappear in infants receiving early lumasiran therapy.
- Published in:
- Pediatric Nephrology, 2024, v. 39, n. 7, p. 2079, doi. 10.1007/s00467-023-06268-3
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- Publication type:
- Article
Genetic assessment in primary hyperoxaluria: why it matters.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 3, p. 625, doi. 10.1007/s00467-022-05613-2
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- Publication type:
- Article
The effect of lumasiran therapy for primary hyperoxaluria type 1 in small infants.
- Published in:
- Pediatric Nephrology, 2022, v. 37, n. 4, p. 907, doi. 10.1007/s00467-021-05393-1
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- Publication type:
- Article
N219Y, a new frequent mutation among mut° forms of methylmalonic acidemia in Caucasian patients.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 8, p. 577, doi. 10.1038/sj.ejhg.5200675
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- Publication type:
- Article
Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes.
- Published in:
- BMC Medicine, 2022, v. 20, n. 1, p. 1, doi. 10.1186/s12916-022-02296-2
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- Publication type:
- Article
Late diagnosis of primary hyperoxaluria type III.
- Published in:
- 2017
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- Publication type:
- journal article
Hyperglycinemia in a 5-Week-Old Boy with Pulmonary Arterial Hypertension.
- Published in:
- Clinical Chemistry, 2022, v. 68, n. 4, p. 604, doi. 10.1093/clinchem/hvab223
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- Publication type:
- Article
A juvenile ALS‐like phenotype dramatically improved after high‐dose riboflavin treatment.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 2, p. 250, doi. 10.1002/acn3.50977
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- Publication type:
- Article
Plasma oxalate: comparison of methodologies.
- Published in:
- Urolithiasis, 2020, v. 48, n. 6, p. 473, doi. 10.1007/s00240-020-01197-4
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- Publication type:
- Article
Primary hyperoxaluria in adults and children: a nationwide cohort highlights a persistent diagnostic delay.
- Published in:
- Clinical Kidney Journal, 2024, v. 17, n. 5, p. 1, doi. 10.1093/ckj/sfae099
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- Publication type:
- Article
Primary hyperoxaluria type 1: pathophysiology and genetics.
- Published in:
- Clinical Kidney Journal, 2022, v. 15, p. i4, doi. 10.1093/ckj/sfab217
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- Publication type:
- Article
Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Leukodystrophy with a cerebellar cystic aspect and intracranial atherosclerosis: an atypical presentation of cerebrotendinous xanthomatosis.
- Published in:
- 2012
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- Publication type:
- Letter
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.
- Published in:
- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 255, doi. 10.1002/jimd.12692
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- Publication type:
- Article
Fifty years of research on mitochondrial fatty acid oxidation disorders: The remaining challenges.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 848, doi. 10.1002/jimd.12664
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- Publication type:
- Article
Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 5, p. 937, doi. 10.1002/jimd.12525
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- Publication type:
- Article
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 415, doi. 10.1007/s10545-017-0021-y
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- Publication type:
- Article
Antenatal manifestations of inborn errors of metabolism: biological diagnosis.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 611, doi. 10.1007/s10545-016-9947-8
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- Publication type:
- Article
Adherence to cysteamine in nephropathic cystinosis: A unique electronic monitoring experience for a better understanding. A prospective cohort study: CrYSTobs.
- Published in:
- Pediatric Nephrology, 2021, v. 36, n. 3, p. 581, doi. 10.1007/s00467-020-04722-0
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- Publication type:
- Article
Renal function can be impaired in children with primary hyperoxaluria type 3.
- Published in:
- Pediatric Nephrology, 2015, v. 30, n. 10, p. 1807, doi. 10.1007/s00467-015-3090-x
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- Publication type:
- Article
Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 7, p. 1907, doi. 10.1093/hmg/ddt585
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- Publication type:
- Article
A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene.
- Published in:
- BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-0665-6
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- Publication type:
- Article
CDKN2A, CDKN2B, and MTAP gene dosage permits precise characterization of mono- and bi-allelic 9p21 deletions in childhood acute lymphoblastic leukemia.
- Published in:
- Genes, Chromosomes & Cancer, 2003, v. 37, n. 1, p. 44, doi. 10.1002/gcc.10188
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- Publication type:
- Article
Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 1, p. 6, doi. 10.3390/ijns9010006
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- Publication type:
- Article
An Atypical Case of Head Tremor and Extensive White Matter in an Adult Female Caused by 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Response to Cysteamine in Osteoclasts Obtained from Patients with Nephropathic Cystinosis: A Genotype/Phenotype Correlation.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 9, p. 2498, doi. 10.3390/cells10092498
- By:
- Publication type:
- Article
Different Clinical Presentation in Siblings with Mitochondrial Acetoacetyl-CoA Thiolase Deficiency and Identification of Two Novel Mutations.
- Published in:
- Tohoku Journal of Experimental Medicine, 2010, v. 220, n. 1, p. 27, doi. 10.1620/tjem.220.27
- By:
- Publication type:
- Article
Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy.
- Published in:
- Human Mutation, 2019, v. 40, n. 10, p. 1826, doi. 10.1002/humu.23799
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- Publication type:
- Article
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.
- Published in:
- 2009
- By:
- Publication type:
- Other
Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut° and mut- forms of methylmalonic acidemia: Identification of 29 novel mutations in the MUT gene.
- Published in:
- Human Mutation, 2005, v. 25, n. 2, p. 167, doi. 10.1002/humu.20128
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- Publication type:
- Article
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment.
- Published in:
- Nephrology Dialysis Transplantation, 2012, v. 27, n. 5, p. 1729
- By:
- Publication type:
- Article
Elastin turnover in Williams–Beuren and 7q11.23 microduplication syndromes.
- Published in:
- European Heart Journal Open, 2024, v. 4, n. 3, p. 1, doi. 10.1093/ehjopen/oeae045
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- Publication type:
- Article