Found: 22
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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
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
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
Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 9, p. 3109, doi. 10.3390/ijms21093109
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- Publication type:
- Article
Intrafamilial Variability in LPIN1-Related Rhabdomyolysis.
- Published in:
- 2020
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- Publication type:
- Abstract
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
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
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- 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
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
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
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
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
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
- Published in:
- 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
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
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
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
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
HIPEROXALÚRIA TIPO 3 - RELATO DE 4 CASOS.
- Published in:
- Brazilian Journal of Nephrology / Jornal Brasileiro de Nefrologia, 2013, v. 35, n. 1, Supp 1, p. 72
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- Publication type:
- Article