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OMMBID Table of Contents >>

  • Part 1: Introduction
    Part 1: Introduction
  • Part 2: Perspectives
    Part 2: Perspectives
  • Part 3: General Themes
    Part 3: General Themes
  • Part 4: Cancer
    Part 4: Cancer
  • Part 5: Chromosomes
    Part 5: Chromosomes
  • Part 6: Diagnostic Approaches
    Part 6: Diagnostic Approaches
  • Part 7: Carbohydrates
    Part 7: Carbohydrates
  • Part 8: Amino Acids
    Part 8: Amino Acids
  • Part 9: Organic Acids
    Part 9: Organic Acids
  • Part 10: Disorders of Mitochondrial Function
    Part 10: Disorders of Mitochondrial Function
  • Part 11: Purines and Pyrimidines
    Part 11: Purines and Pyrimidines
  • Part 12: Lipids
    Part 12: Lipids
  • Part 13: Porphyrins
    Part 13: Porphyrins
  • Part 14: Metals
    Part 14: Metals
  • Part 15: Peroxisomes
    Part 15: Peroxisomes
  • Part 16: Lysosomal Disorders
    Part 16: Lysosomal Disorders
  • Part 17: Vitamins
    Part 17: Vitamins
  • Part 18: Hormones
    Part 18: Hormones
  • Part 19: Blood
    Part 19: Blood
  • Part 20: Immune and Defense Systems
    Part 20: Immune and Defense Systems
  • Part 21: Membrane Transport Disorders
    Part 21: Membrane Transport Disorders
  • Part 22: Connective Tissue
    Part 22: Connective Tissue
  • Part 23: Cardiovascular System
    Part 23: Cardiovascular System
  • Part 24: Kidney
    Part 24: Kidney
  • Part 25: Muscle
    Part 25: Muscle
  • Part 26: Lung
    Part 26: Lung
  • Part 27: Skin
    Part 27: Skin
  • Part 28: Neurogenetics
    Part 28: Neurogenetics
  • Part 29: Eye
    Part 29: Eye
  • Part 30: Multisystem Inborn Errors of Development
    Part 30: Multisystem Inborn Errors of Development
  • Part 31: Neurogenetics
    Part 31: Neurogenetics

OMMBID Blog >>

12/9/2016

CoEnzyme Q10 deficiency leads to downstream disruption of sulfide metabolism

Luna-Sanchez et al (EMBO Molecular Medicine, November 2016, pii: e201606345. doi: 10.15252/emmm.201606345) recently published an article in which they described downstream effects of CoEnzyme Q10 deficiency in both a fibroblast model and two mouse models of primary CoQ10 deficiency. This group uncovered alterations in thiol metabolism, and subsequent changes in ... Read More >>
11/18/2016

New mechanism of mitochondrial disease leading to left ventricular non-compaction

Eldomery et al. (Genome Medicine (2016) 8:106) recently described a new mechanism of mitochondrial disease underlying a phenotype of left ventricular non-compaction, hypotonia and early death. Four affected individuals were found via whole exome sequencing to have compound heterozygous or homozygous pathogenic variants in a gene called MIPEP. This gene ... Read More >>

New Resource >>

Molecular Animation

The Lecithin Cholesterol Acyltransferase (LCAT) Reaction animation, featured on Chapter 118 of OMMBID.