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

Advanced Diagnostic System and Introduction of Newborn Screening of Adrenoleukodystrophy and Peroxisomal Disorders in Japan

25 Aug 2021

Abstract excerpt

We established a diagnostic system for adrenoleukodystrophy (ALD) and peroxisomal disorders (PD) over 35 years ago in Japan, and have diagnosed 237 families with ALD and more than 100 cases of PD other than ALD using biochemical and molecular analyses. In particular, since the only treatment for the cerebral form of ALD is hematopoietic stem cell transplantation at an early stage of onset, we have developed a...

Read the complete abstract on PubMed

Topics

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

Share to Metabolism and Genetic Disorders
Share to Neurogenetic and Muscular Disorders Research
Share to Peroxisome Proliferator-Activated Receptors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 34449525
DOI: 10.3390/ijns7030058

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Advanced Diagnostic System and Introduction of Newborn Screening of Adrenoleukodystrophy and Peroxisomal Disorders in JapanPMID 34449525Read ↗

X-linked adrenoleukodystrophy: diagnostic and follow-up system in Japan.Semantic proximity Read ↗

Molecular and clinical aspects of peroxisomal diseasesSemantic proximity Read ↗

Adrenoleukodystrophy: Current understanding of disease mechanisms, diagnosis, and therapeutic advances-a recent review.Semantic proximity Read ↗

Management of adrenoleukodystrophy: From pre-clinical studies to the development of new therapiesSemantic proximity Read ↗

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.Semantic proximity Read ↗

Management of adrenoleukodystrophy: From pre-clinical studies to the development of new therapies.Semantic proximity Read ↗

X-linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies.Semantic proximity Read ↗

Identification of two novel mutations of ABCD1 gene in pedigrees with X‐linked adrenoleukodystrophySemantic proximity Read ↗

Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophySemantic proximity Read ↗

Peroxisomal disorders.Semantic proximity Read ↗

Zellweger spectrum disorders: clinical overview and management approach.Semantic proximity Read ↗

[Endocrine and metabolic diseases].Semantic proximity Read ↗

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