Works matching DE "AUTOSOMAL recessive polycystic kidney"
Results: 450
Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes.
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- Clinical & Experimental Nephrology, 2022, v. 26, n. 2, p. 140, doi. 10.1007/s10157-021-02135-3
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- Article
A digest from evidence-based Clinical Practice Guideline for Polycystic Kidney Disease 2020.
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- Clinical & Experimental Nephrology, 2021, v. 25, n. 12, p. 1292, doi. 10.1007/s10157-021-02097-6
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- Article
Effect of everolimus on polycystic liver volume in autosomal dominant polycystic kidney disease.
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- Clinical & Experimental Nephrology, 2015, v. 19, n. 4, p. 757, doi. 10.1007/s10157-014-1059-x
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- Article
Lipoid proteinosis unveiled by oral mucosal lesions: a comprehensive analysis of 137 cases.
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- Clinical Oral Investigations, 2017, v. 21, n. 7, p. 2245, doi. 10.1007/s00784-016-2017-7
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- Article
Pediatric Tubular and Inherited Disorders in Asia: Results of Preliminary Survey of the Asian Pediatric Nephrology Association (AsPNA) Tubular and Inherited Working Group.
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- Asian Journal of Pediatric Nephrology, 2022, v. 5, n. 1, p. 14, doi. 10.4103/ajpn.ajpn_2_22
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- Article
Electrolyte and metabolite composition of cystic fluid from a rat model of ARPKD.
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- Communications Biology, 2025, v. 8, n. 1, p. 1, doi. 10.1038/s42003-025-07631-w
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- Article
Autosomal Recessive Non-Syndromic Hearing Loss: A Case Report with a Novel TRIOBP Gene Variant.
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- Case Reports in Clinical Practice, 2024, v. 9, n. 3, p. 108
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- Article
A Case Report of Isovaleric Acidemia without Acidosis.
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- Case Reports in Clinical Practice, 2024, v. 9, n. 1, p. 3
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- Article
Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia.
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- Human Genetics, 2023, v. 142, n. 5, p. 697, doi. 10.1007/s00439-023-02523-7
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- Article
Pantothenate kinase-associated neurodegeneration (PKAN) – a rare clinical entity.
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- Acta Oto-Laryngologica Case Reports, 2016, v. 1, n. 1, p. 90, doi. 10.1080/23772484.2016.1247649
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- Article
A new coupling of an acid‐base transporter to PKD and cyst formation.
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- Journal of Physiology, 2019, v. 597, n. 2, p. 367, doi. 10.1113/JP276727
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- Article
A Rare Case of Pachydermoperisotosis (PDP) and Its Ocular Manifestations.
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- Pakistan Journal of Ophthalmology, 2022, v. 38, n. 4, p. 289, doi. 10.36351/pjo.v38i4.1399
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- Article
Autosomal Dominant Polycystic Kidney Disease Combined with Intracranial Aneurysm and Dilated Cardiomyopathy: A Case Report.
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- 2014
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- Case Study
EP06.19: Prenatal diagnosis of Bardet‐Biedl Syndrome.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 152, doi. 10.1002/uog.28192
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- Article
INDIAMAN‐20 (INstant DIAgnosis of 20 Major ANomalies) protocol: application of IOTA diagnostic strategy to fetal anomalies.
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- Ultrasound in Obstetrics & Gynecology, 2023, v. 62, n. 1, p. 61, doi. 10.1002/uog.26138
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- Article
VP32.07: Prenatal diagnosis of Caroli's syndrome in association with autosomal recessive polycystic kidney disease.
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- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 190, doi. 10.1002/uog.22810
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- Article
Caroli's syndrome evaluated by ultrasound and magnetic resonance imaging during pregnancy.
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- 2020
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- Publication type:
- Case Study
EP15.06: Unusual sonographic appearance of the fetal kidneys in autosomal recessive polycystic kidney disease (ARPKD).
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- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 317, doi. 10.1002/uog.21387
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- Article
EP06.05: It is possible to diagnose Joubert syndrome with prenatal sonographic "molar tooth sign".
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- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 262, doi. 10.1002/uog.21205
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- Article
P04.03: In utero diagnosis of autosomal dominant polycystic kidney disease.
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- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 165, doi. 10.1002/uog.20906
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- Article
Virtual pathological examination of the human fetal kidney using micro-CT.
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- Ultrasound in Obstetrics & Gynecology, 2016, v. 48, p. 663, doi. 10.1002/uog.15859
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- Article
Virtual pathological examination of the human fetal kidney using micro-CT.
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- 2016
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- Publication type:
- Letter
Mini Orals.
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- Nephrology, 2020, v. 25, p. 17, doi. 10.1111/nep.13798
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- Article
Autosomal dominant form of type IV collagen nephropathy exists among patients with hereditary nephritis difficult to diagnose clinicopathologically.
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- Nephrology, 2018, v. 23, n. 10, p. 940, doi. 10.1111/nep.13115
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- Article
A FAD DIET CAUSING ACUTE KIDNEY INJURY.
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- Nephrology, 2018, v. 23, n. 10, p. 962, doi. 10.1111/nep.13237
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- Article
Recurrent oxalosis in a combined liver‐kidney transplant patient with primary hyperoxaluria type 1 resulting in graft failure.
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- Nephrology, 2018, v. 23, n. 10, p. 962, doi. 10.1111/nep.13228
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- Article
Effects of endothelial nitric oxide synthase gene on end stage renal disease progression in autosomal dominant polycystic kidney disease.
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- Nephrology, 2014, v. 19, n. 10, p. 630, doi. 10.1111/nep.12310
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- Article
T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature.
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- Case Reports in Genetics, 2018, p. 1, doi. 10.1155/2018/2618071
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- Article
Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability.
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- Case Reports in Genetics, 2018, p. 1, doi. 10.1155/2018/6737938
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- Article
Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T.
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- Case Reports in Genetics, 2015, p. 1, doi. 10.1155/2015/532090
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- Article
Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease.
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- 2014
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- Publication type:
- Case Study
Prenatal Diagnosis of Fetal Peters' Plus Syndrome: A Case Report.
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- Case Reports in Genetics, 2013, p. 1, doi. 10.1155/2013/364529
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- Article
High Resolution Ultrasonography for Assessment of Renal Cysts in the PCK Rat Model of Autosomal Recessive Polycystic Kidney Disease.
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- Kidney & Blood Pressure Research, 2024, v. 41, n. 2, p. 186, doi. 10.1159/000443420
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- Article
Clinical Manifestation, Management and Prognosis of Acute Myocardial Infarction in Autosomal Dominant Polycystic Kidney Disease.
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- Kidney & Blood Pressure Research, 2018, v. 43, n. 6, p. 1806, doi. 10.1159/000495638
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- Article
Novel Mutations in the PKD1 and PKD2 Genes of Chinese Patients with Autosomal Dominant Polycystic Kidney Disease.
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- Kidney & Blood Pressure Research, 2018, v. 43, n. 2, p. 297, doi. 10.1159/000487899
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- Article
A New PKD1 Mutation Discovered in a Chinese Family with Autosomal Polycystic Kidney Disease.
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- Kidney & Blood Pressure Research, 2014, v. 39, n. 1, p. 1, doi. 10.1159/000355772
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- Article
Audiological outcomes in cases with mucopolysaccharidoses (Morquio's disease).
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- Indian Journal of Otology, 2014, v. 20, n. 2, p. 75, doi. 10.4103/0971-7749.131873
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- Article
Dubowitz syndrome: common findings and peculiar urine odor.
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- Application of Clinical Genetics, 2013, v. 6, p. 87, doi. 10.2147/TACG.S47777
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- Article
Coagulation Parameters in Wilson Disease.
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- Journal of Gastrointestinal & Liver Diseases, 2015, v. 24, n. 2, p. 183, doi. 10.15403/jgld.2014.1121.242.wls
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- Article
Management of Abdominoperineal Excision of the Rectum in a Patient with Glanzmann Thrombasthenia.
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- Acta Haematologica, 2018, v. 139, n. 4, p. 243, doi. 10.1159/000489114
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- Article
Hyperimmunoglobulin E syndrome in three siblings of non-consanguineous healthy Egyptian family. Case report.
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- Revista Alergia de Mexico, 2018, v. 65, p. 121
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- Article
ACUTE GALLBLADDER HYDROPS AND ARTHRITIS: UNUSUAL INITIAL MANIFESTATIONS OF WILSON'S DISEASE (WD).
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- Contributions of Macedonian Academy of Sciences & Arts, 2011, v. 32, n. 2, p. 307
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- Article
Treatment of arginase deficiency revisited: guanidinoacetate as a therapeutic target and biomarker for therapeutic monitoring.
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- Developmental Medicine & Child Neurology, 2014, v. 56, n. 10, p. 1021, doi. 10.1111/dmcn.12488
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- Article
Clinical and Molecular Characterization of Patients with Gross Hypotonia and Impaired Lower Motor Neuron Function.
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- Indian Pediatrics, 2013, v. 50, n. 6, p. 591, doi. 10.1007/s13312-013-0168-z
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- Article
Pseudohypoaldosteronism Type 1: Management Issues.
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- Indian Pediatrics, 2013, v. 50, n. 3, p. 331, doi. 10.1007/s13312-013-0070-8
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- Article
Protocol for the nationwide registry of patients with polycystic kidney disease: japanese national registry of PKD (JRP).
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- Clinical & Experimental Nephrology, 2024, v. 28, n. 10, p. 1004, doi. 10.1007/s10157-024-02509-3
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- Article
Prenatal ultrasound in fetuses with polycystic kidney appearance — expanding the diagnostic algorithm.
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- Archives of Gynecology & Obstetrics, 2023, v. 308, n. 4, p. 1287, doi. 10.1007/s00404-022-06814-8
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- Article
A Novel MYO6 Splice Site Mutation Causes Autosomal Dominant Sensorineural Hearing Loss Type DFNA22 with a Favourable Outcome after Cochlear Implantation.
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- Audiology & Neurotology, 2013, v. 18, n. 3, p. 192, doi. 10.1159/000350246
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- Article
INTERNATIONAL CONGRESS FOR STUDENTS, YOUNG DOCTORS AND PHARMACISTS MARISIENSIS.
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- Acta Marisiensis. Seria Medica, 2020, v. 66, p. 1
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- Article
A Case of Dyschromatosis Universalis Hereditaria with Chronic Kidney Disease.
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- Indian Practitioner, 2019, v. 72, n. 11, p. 21
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- Article