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Menkes disease

  • The Inherited Metabolic Disorders News

    The Inherited Metabolic Disorders News

  • Menkes Disease in 5 Siblings

    Menkes Disease in 5 Siblings

  • Menkes Disease Submitted By: Alice Ho, Jean Mah, Robin Casey, Penney Gaul

    Menkes Disease Submitted By: Alice Ho, Jean Mah, Robin Casey, Penney Gaul

  • Menkes Disease: Report of Two Cases

    Menkes Disease: Report of Two Cases

  • Multipoint Linkage Analysis in Menkes Disease T

    Multipoint Linkage Analysis in Menkes Disease T

  • Clinical Expression of Menkes Disease in Females with Normal Karyotype

    Clinical Expression of Menkes Disease in Females with Normal Karyotype

  • Publications for John Christodoulou 2021 2020

    Publications for John Christodoulou 2021 2020

  • Pili Torti: a Feature of Numerous Congenital and Acquired Conditions

    Pili Torti: a Feature of Numerous Congenital and Acquired Conditions

  • Molecular Genetics and Metabolism Reports 24 (2020) 100625

    Molecular Genetics and Metabolism Reports 24 (2020) 100625

  • Menkes Disease: a Biochemical Abnormality in Cultured Human Fibroblasts (Copper/Kinky-Hair Disease/X-Linked Inheritance) THOMAS J

    Menkes Disease: a Biochemical Abnormality in Cultured Human Fibroblasts (Copper/Kinky-Hair Disease/X-Linked Inheritance) THOMAS J

  • Leukodystrophies by Raphael Schiffmann MD (Dr

    Leukodystrophies by Raphael Schiffmann MD (Dr

  • Mouse Models of Human Disease. Part II: Recent Progress and Future Directions

    Mouse Models of Human Disease. Part II: Recent Progress and Future Directions

  • Pigmentary Disorders of the Eyes and Skin Syril Keena T

    Pigmentary Disorders of the Eyes and Skin Syril Keena T

  • ATP7A Sequencing for Menkes Disease and Occipital Horn Syndrome

    ATP7A Sequencing for Menkes Disease and Occipital Horn Syndrome

  • Chelating Principles in Menkes and Wilson Diseases

    Chelating Principles in Menkes and Wilson Diseases

  • The Genetics of Hair Shaft Disorders

    The Genetics of Hair Shaft Disorders

  • Disorders of Lysosomes, Peroxisomes, and Mitochondria

    Disorders of Lysosomes, Peroxisomes, and Mitochondria

  • Teaching Neuroimages: Menkes Kinky Hair Syndrome Roopa Seshadri, P.S

    Teaching Neuroimages: Menkes Kinky Hair Syndrome Roopa Seshadri, P.S

Top View
  • A Clinical Approach to the Diagnosis of Patients with Leukodystrophies and Genetic Leukoencephelopathies
  • Beacon Carrier Screening Detecting 400+ Conditions
  • Undiagnosed Wilson's Disease and Fibromyalgia Masking
  • Canine Models for Copper Homeostasis Disorders
  • Neuroimaging Changes in Menkes Disease, Part 2
  • SELF ASSESSMENT ANSWERS an Interesting Case of Thirst and Polyuria a Proliferating Pimple
  • Boards' Fodder
  • Neurodevelopment Next-Generation
  • Disease: Abnormalities of Copper, Zinc and Magnesium in Blood
  • ATP7A-Regulated Enzyme Metalation and Trafficking in the Menkes
  • The Nutritional Relationships of Copper David L
  • Beyond the Mind—Serum Trace Element Levels in Schizophrenic Patients: a Systematic Review
  • A Phenotype Map of the Mouse X Chromosome: Models for Human X-Linked Disease
  • The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders
  • Changes in Body Weight and Height in Survivors of Menkes Disease
  • Expanded Carrier Screening
  • Diagnosis of Inherited Metabolic Disorders Affecting the Nervous System
  • Rare Forms of Dementia


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