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Selective Screening of High-risk Iranian Patients for the Detection of Inborn Error of Metabolism.
- Published in:
- Iranian Journal of Neonatology, 2014, v. 5, n. 4, p. 11
- By:
- Publication type:
- Article
Fibrosing colonopathy associated with cysteamine bitartrate delayed-release capsules in cystinosis patients.
- Published in:
- Pediatric Nephrology, 2024, v. 39, n. 8, p. 2429, doi. 10.1007/s00467-024-06339-z
- By:
- Publication type:
- Article
Extrarenal complications of cystinosis.
- Published in:
- Pediatric Nephrology, 2024, v. 39, n. 8, p. 2283, doi. 10.1007/s00467-023-06225-0
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- Publication type:
- Article
Worldwide disparities in access to treatment and investigations for nephropathic cystinosis: a 2023 perspective.
- Published in:
- Pediatric Nephrology, 2024, v. 39, n. 4, p. 1113, doi. 10.1007/s00467-023-06179-3
- By:
- Publication type:
- Article
Multinucleated podocytes as a clue to diagnosis of juvenile nephropathic cystinosis.
- Published in:
- Pediatric Nephrology, 2024, v. 39, n. 2, p. 609, doi. 10.1007/s00467-023-06103-9
- By:
- Publication type:
- Article
Hypouricemia with recurrent nephrolithiasis: an overlooked entity: Answers.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 10, p. 3283, doi. 10.1007/s00467-023-06003-y
- By:
- Publication type:
- Article
Hypouricemia with recurrent nephrolithiasis: an overlooked entity: Questions.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 10, p. 3281, doi. 10.1007/s00467-023-06002-z
- By:
- Publication type:
- Article
Clinical significance of hypouricemia in children and adolescents.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 9, p. 3017, doi. 10.1007/s00467-023-05948-4
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- Publication type:
- Article
An uncommon cause of hypophosphatemic rickets: Questions.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 8, p. 2611, doi. 10.1007/s00467-023-05951-9
- By:
- Publication type:
- Article
Unexpected finding in kidney biopsy of a child with nephrotic proteinuria: Answers.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 1, p. 115, doi. 10.1007/s00467-022-05615-0
- By:
- Publication type:
- Article
Late-onset hypertension in a child with growth retardation: Answers.
- Published in:
- Pediatric Nephrology, 2022, v. 37, n. 10, p. 2341, doi. 10.1007/s00467-022-05510-8
- By:
- Publication type:
- Article
Hypokalemia and hypertensive urgency in a 10-year-old boy: Answers.
- Published in:
- 2021
- By:
- Publication type:
- Question & Answer
Persistent hyperkalemia in an otherwise healthy 4-month-old female: Answers.
- Published in:
- 2020
- By:
- Publication type:
- Test/Instrument
Prevalence, diagnosis, and management of secondary pseudohypoaldosteronism.
- Published in:
- Pediatric Nephrology, 2020, v. 35, n. 4, p. 713, doi. 10.1007/s00467-019-04419-z
- By:
- Publication type:
- Article
An infant with hyponatremia, hyperkalemia, and metabolic acidosis associated with urinary tract infection: Questions.
- Published in:
- Pediatric Nephrology, 2019, v. 34, n. 10, p. 1737, doi. 10.1007/s00467-019-04252-4
- By:
- Publication type:
- Article
Effects of long-term cysteamine treatment in patients with cystinosis.
- Published in:
- Pediatric Nephrology, 2019, v. 34, n. 4, p. 571, doi. 10.1007/s00467-017-3856-4
- By:
- Publication type:
- Article
Long-term renal outcomes of APRT deficiency presenting in childhood.
- Published in:
- Pediatric Nephrology, 2019, v. 34, n. 3, p. 435, doi. 10.1007/s00467-018-4109-x
- By:
- Publication type:
- Article
An infant with hypercalcemia and hyperammonia: inborn error of metabolism or not? Questions.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
An infant with hypercalcemia and hyperammonia: inborn error of metabolism or not? Answers.
- Published in:
- Pediatric Nephrology, 2019, v. 34, n. 2, p. 251, doi. 10.1007/s00467-018-4022-3
- By:
- Publication type:
- Article
A child presenting with severe hypertension and circulatory failure-a diagnostic conundrum: Answers.
- Published in:
- Pediatric Nephrology, 2017, v. 32, n. 11, p. 2059, doi. 10.1007/s00467-017-3600-0
- By:
- Publication type:
- Article
Glycolate oxidase deficiency in a patient with congenital hyperinsulinism and unexplained hyperoxaluria.
- Published in:
- Pediatric Nephrology, 2017, v. 32, n. 11, p. 2159, doi. 10.1007/s00467-017-3741-1
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- Publication type:
- Article
Clinical and molecular aspects of distal renal tubular acidosis in children.
- Published in:
- Pediatric Nephrology, 2017, v. 32, n. 6, p. 987, doi. 10.1007/s00467-016-3573-4
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- Publication type:
- Article
Phenotypic variability of Dent disease in a large New Zealand kindred.
- Published in:
- Pediatric Nephrology, 2017, v. 32, n. 2, p. 365, doi. 10.1007/s00467-016-3472-8
- By:
- Publication type:
- Article
A neonate with poor weight gain and hyperkalemia: Answers.
- Published in:
- Pediatric Nephrology, 2017, v. 32, n. 1, p. 73, doi. 10.1007/s00467-015-3281-5
- By:
- Publication type:
- Article
An unusual case of renal failure: Answers.
- Published in:
- Pediatric Nephrology, 2017, v. 32, n. 1, p. 79, doi. 10.1007/s00467-015-3300-6
- By:
- Publication type:
- Article
A neonate with poor weight gain and hyperkalemia: Questions.
- Published in:
- Pediatric Nephrology, 2017, v. 32, n. 1, p. 71, doi. 10.1007/s00467-015-3280-6
- By:
- Publication type:
- Article
An infant with nephrolithiasis and renal failure: Answers.
- Published in:
- Pediatric Nephrology, 2016, v. 31, n. 7, p. 1083, doi. 10.1007/s00467-015-3100-z
- By:
- Publication type:
- Article
An unusual cause of 'pink diaper' in an infant: Answers.
- Published in:
- Pediatric Nephrology, 2016, v. 31, n. 4, p. 577, doi. 10.1007/s00467-015-3073-y
- By:
- Publication type:
- Article
Common mutation causes cystinosis in the majority of black South African patients.
- Published in:
- Pediatric Nephrology, 2015, v. 30, n. 4, p. 595, doi. 10.1007/s00467-014-2980-7
- By:
- Publication type:
- Article
Cyanosis in a male Nigerian infant with acute kidney injury: Answers.
- Published in:
- Pediatric Nephrology, 2014, v. 29, n. 6, p. 1011, doi. 10.1007/s00467-013-2568-7
- By:
- Publication type:
- Article
A biphasic dialytic strategy for the treatment of neonatal hyperammonemia.
- Published in:
- 2014
- By:
- Publication type:
- Report
A rare cause of systemic hypertension in an African child: Answers.
- Published in:
- Pediatric Nephrology, 2014, v. 29, n. 1, p. 63, doi. 10.1007/s00467-013-2446-3
- By:
- Publication type:
- Article
CUL3 gene analysis enables early intervention for pediatric pseudohypoaldosteronism type II in infancy.
- Published in:
- 2013
- By:
- Publication type:
- Report
Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria.
- Published in:
- 2012
- By:
- Publication type:
- Report
Genetic basis of cystinosis in Turkish patients: a single-center experience.
- Published in:
- Pediatric Nephrology, 2012, v. 27, n. 1, p. 115, doi. 10.1007/s00467-011-1942-6
- By:
- Publication type:
- Article
An unusual case of hyperkalaemia in infancy: answer.
- Published in:
- Pediatric Nephrology, 2011, v. 26, n. 7, p. 1067, doi. 10.1007/s00467-010-1684-x
- By:
- Publication type:
- Article
Orange-colored diapers in infants from families with gout.
- Published in:
- 2011
- By:
- Publication type:
- Letter
Systemic oxalosis in hyperoxaluria type 1.
- Published in:
- Rheumatology, 2017, v. 56, n. 3, p. 361, doi. 10.1093/rheumatology/kew380
- By:
- Publication type:
- Article
Is gout associated with reduced quality of life? A case-control study.
- Published in:
- Rheumatology, 2007, v. 46, n. 9, p. 1441, doi. 10.1093/rheumatology/kem150
- By:
- Publication type:
- Article
Click.
- Published in:
- 2014
- Publication type:
- Web Site Review
3D Printing of Dietary Products for the Management of Inborn Errors of Intermediary Metabolism in Pediatric Populations.
- Published in:
- Nutrients, 2024, v. 16, n. 1, p. 61, doi. 10.3390/nu16010061
- By:
- Publication type:
- Article
Effect of Special Low-Protein Foods Consumption in the Dietary Pattern and Biochemical Profile of Patients with Inborn Errors of Protein Metabolism: Application of a Database of Special Low-Protein Foods.
- Published in:
- Nutrients, 2023, v. 15, n. 15, p. 3475, doi. 10.3390/nu15153475
- By:
- Publication type:
- Article
Evaluation of Body Composition, Physical Activity, and Food Intake in Patients with Inborn Errors of Intermediary Metabolism.
- Published in:
- Nutrients, 2021, v. 13, n. 6, p. 2111, doi. 10.3390/nu13062111
- By:
- Publication type:
- Article
Antenatal diagnosis of achondroplasia.
- Published in:
- Bangladesh Journal of Medical Science, 2014, v. 13, n. 1, p. 84, doi. 10.3329/bjms.v13i1.17443
- By:
- Publication type:
- Article
Inborn errors of metabolism: a new purview of internal medicine.
- Published in:
- 1994
- By:
- Publication type:
- commentary
Synthetic human parathyroid hormone 1-34 fragment for diagnostic testing.
- Published in:
- 1988
- By:
- Publication type:
- journal article
The Genetics Corner: Hypophosphatasia.
- Published in:
- Neonatology Today, 2020, v. 15, n. 10, p. 99, doi. 10.51362/neonatology.today/202010151099103
- By:
- Publication type:
- Article
D-28 BIOCHEMICAL APPROACH TO INBORN ERRORS OF METABOLISM.
- Published in:
- 2018
- By:
- Publication type:
- Abstract
Ethical implications of early genetic diagnosis in an infant with Lesch–Nyhan syndrome.
- Published in:
- Journal of Genetic Counseling, 2022, v. 31, n. 6, p. 1434, doi. 10.1002/jgc4.1616
- By:
- Publication type:
- Article
Cystinosis: Diagnostic Role of Bone Marrow Examination.
- Published in:
- 2014
- By:
- Publication type:
- Case Study