Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities.

Pediatric nephrology (Berlin, Germany) - 1 May 2017

Hackl Agnes, Mehler Katrin, Gottschalk Ingo, Vierzig Anne, Eydam Marcus, Hauke Jan, Beck Bodo B, Liebau Max C, Ensenauer Regina, Weber Lutz T, Habbig Sandra

Abstract excerpt

BACKGROUND: Differential diagnosis of prenatally detected hyperechogenic and enlarged kidneys can be challenging as there is a broad phenotypic overlap between several rare genetic and non-genetic disorders. Metabolic diseases are among the rarest underlying disorders, but they demand particular attention as their prognosis and postnatal management differ from those of other diseases. METHODS: We report two cases...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Electron-Transferring Flavoproteins
Share to Glutarates

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Iron-Sulfur Proteins

Share to Lipid Metabolism, Inborn Errors

Share to Oxidoreductases Acting on CH-NH Group Donors

Share to Polycystic Kidney, Autosomal Recessive

Share to Ultrasonography

Share to Ultrasonography, Prenatal

Source

Identifiers

PMID: 28083701
DOI: 10.1007/s00467-016-3556-5

Genes

ETFDH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities.PMID 28083701Read ↗

A rare cause of echogenic kidneys with oligohydramnios in the fetus: report of two different cases.Semantic proximity Read ↗

A rare cause of echogenic kidneys with oligohydramnios in the fetus: report of two different casesSemantic proximity Read ↗

Prenatal Diagnosis and Prognosis of Fetal Hyperechogenic Kidney: A Study of 80 CasesSemantic proximity Read ↗

[Diagnosis of glutaric acidemia type ⅡC by fetal whole exome sequencing].Semantic proximity Read ↗

Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases.Semantic proximity Read ↗

Child Neurology: Zellweger syndromeSemantic proximity Read ↗

Dysfunctional Postnatal Mitochondrial Energy Metabolism in a Patient with Neurodevelopmental Defects Caused by Intrauterine Growth Restriction Due to Idiopathic Placental InsufficiencySemantic proximity Read ↗

Carnitine palmitoyltransferase II deficiency due to a novel gene variant in a patient with rhabdomyolysis and ARF.Semantic proximity Read ↗

Early Onset Hepatocellular Disease in an Infant with Zellweger Syndrome.Semantic proximity Read ↗

Prenatal diagnosis and outcome of fetal hyperechogenic kidneys in the era of antenatal next-generation sequencingSemantic proximity Read ↗

Inborn errors of cytoplasmic triglyceride metabolism.Semantic proximity Read ↗

Prenatal hyperechogenic kidneys in three cases of infantile hypercalcemia associated with SLC34A1 mutations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.