Incidence of X-linked adrenoleukodystrophy and the relative frequency of its phenotypes

A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.

Journal of inherited metabolic disease·2009

Magnetization transfer MRI demonstrates spinal cord abnormalities in adrenomyeloneuropathy.

Neurology·2005

Spectroscopic evidence of cerebral axonopathy in patients with "pure" adrenomyeloneuropathy.

Neurology·2005

Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy.

Neurology·2003

MRI and proton MRSI in women heterozygous for X-linked adrenoleukodystrophy.

Neurology·2003

Proton MR spectroscopic imaging predicts lesion progression on MRI in X-linked adrenoleukodystrophy.

Neurology·2002

Defects of blastogenesis.

American journal of medical genetics·2002

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

American journal of medical genetics·2002

Limb anomalies: Developmental and evolutionary aspects.

American journal of medical genetics·2002

Molecular etiology of gut malformations and diseases.

American journal of medical genetics·2002

Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).

American journal of medical genetics·2002

Three cases of tetrasomy 9p.

American journal of medical genetics·2002

Body Mass Index and LDL Cholesterol Across Controls, Hypertension, and Ischemic Heart Disease with Preserved Ejection Fraction: A Single-Center Retrospective Cross-Sectional Study.

Journal of clinical medicine·2026

Preoperative Prediction of Total Small Bowel Length Using Anthropometric Measurements: Development and Internal Validation of a Model in 327 Adult Autopsies.

Diagnostics (Basel, Switzerland)·2026

Genetic Associations Among Appendicular Lean Mass, Alanine Aminotransferase, and Type 2 Diabetes: Multi-Dataset Mendelian Randomization and Colocalization at the SERPINA1 Candidate Locus.

Genes·2026

Genetic Structure and Population Affinities of Albanians: A Regional STR-Based Analysis Within the European Context.

Genes·2026

Establishment of Reference Intervals for Eight Steroid Hormones in Korean Adults Using LC-MS/MS: Impact of Outlier Exclusion and Statistical Methods.

Annals of clinical and laboratory science·2026

Inference genetic structure and regional ancestry of Asian populations using 164 AISNPs and machine learning approaches.

Forensic science international. Genetics·2026

Related Experiment Videos

Incidence of X-linked adrenoleukodystrophy and the relative frequency of its phenotypes

Related Concept Videos

A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.

Magnetization transfer MRI demonstrates spinal cord abnormalities in adrenomyeloneuropathy.

Spectroscopic evidence of cerebral axonopathy in patients with "pure" adrenomyeloneuropathy.

Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy.

MRI and proton MRSI in women heterozygous for X-linked adrenoleukodystrophy.

Proton MR spectroscopic imaging predicts lesion progression on MRI in X-linked adrenoleukodystrophy.

Defects of blastogenesis.

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

Limb anomalies: Developmental and evolutionary aspects.

Molecular etiology of gut malformations and diseases.

Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).

Three cases of tetrasomy 9p.

Body Mass Index and LDL Cholesterol Across Controls, Hypertension, and Ischemic Heart Disease with Preserved Ejection Fraction: A Single-Center Retrospective Cross-Sectional Study.

Preoperative Prediction of Total Small Bowel Length Using Anthropometric Measurements: Development and Internal Validation of a Model in 327 Adult Autopsies.

Genetic Associations Among Appendicular Lean Mass, Alanine Aminotransferase, and Type 2 Diabetes: Multi-Dataset Mendelian Randomization and Colocalization at the SERPINA1 Candidate Locus.

Genetic Structure and Population Affinities of Albanians: A Regional STR-Based Analysis Within the European Context.

Establishment of Reference Intervals for Eight Steroid Hormones in Korean Adults Using LC-MS/MS: Impact of Outlier Exclusion and Statistical Methods.

Inference genetic structure and regional ancestry of Asian populations using 164 AISNPs and machine learning approaches.

Related Experiment Videos

Incidence of X-linked adrenoleukodystrophy and the relative frequency of its phenotypes

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