Mitochondria
Branched Chain Alpha-Ketone Dehydrogenase
Autosomal recessive mutations
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Johns Hopkins Medicine
Editor-in-Chief
Search Medicine in a Nutshell
Content: Robust 3-D Diagnoses
Diagnoses:
1. 3-dimensional
2. succinct
3. robust
3-dimensions:
2. pathological lesion
Succinct:
1. single line per dimension
2. clear
3. symptomatology implied
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Diagnosis in a Nutshell
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2009
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October
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- Diagnosis
- Where ?
- What ?
- Why ?
- Prognosis
- Therapy
- Familial Hypercholestrolemia
- Hemolytic Uremic Syndrome
- Takayusi's Arteritis
- Zollinger-Ellison Syndrome
- Hepatic Encephalopathy
- Autism
- Cystic Fibrosis
- Osteoporosis
- Obstructive Sleep Apnea
- Paroxysmal Supraventricular Tachycardia
- Myasthenia Gravis
- Pneumoconiosis
- Broca's (motor, non-fluent) aphasia
- von Recklinghausen's disease
- Lacuna infarctions (LACI)
- Hyperacusis
- Wilson's Disease (Hepatolenticular degeneration)
- Conversion Disorder
- Narcolepsy
- Marfan's Syndrome
- Xeroderma Pigmentosum (XP)
- Alkaptonuria
- Methylmalonyl aciduria
- Medium Chain Acyl CoA Deficiency (MCAD)
- Marple Syrup Disease (MSUD)
- Ehlers Danlos Syndrome
- Merkel's Diverticulum
- Multiple Endocrine Neoplasia (MEN)
- Hirschsprung Disease
- Potter's Syndrome
- Craniopharyngoma
- Caudal Regression Syndromme
- Klinefelter's Syndrome
- Fragile X Chromosome
- AML
- Follicular Lymphoma (a NHL)
- Alzheimer's Disease
- Mitochondrial Encephalopathy (MELAS)
- Huntington's Disease
- Henoch-Schonlein Purpura (HSP)
- Systemic Lupus Erythematosus (SLE)
- Rheumatoid Arthritis
- Leucocyte Adhesion Deficiency
- Ecthyma Gangrenosum
- Tetanus
- Multiple Sclerosis (MS)
- Infectious Mononucleosis (IM, Mono)
- CREST Syndrome
- Scleroderma
- Pemphigus Vulgaris
- Esophageal Adenocarcinoma
- Wegener's Granulomatosis
- Hashimoto's Thyroiditis
- Colorectal Carcinoma
- Carcinoid Syndrome
- Emphysema
- Liver Injury*
- Paroxysmal Nocturnal Hemoglobinuria
- Chronic Myeloid Leukemia
- Hyperestrinism
- Lyme's Disease (Borreliosis)
- MAO Tyramine Crisis
- Tardive Dyskinesia
- Friedreich Ataxia
- Normal Pressure Hydrocephalus (NPH)
- Wolff-Parkinson-White Syndrome* (PSVT)
- Chronic Constrictive Pericarditis
- Prinzmetal's (Variant) Angina
- Petit Mal Seizure
- Syringomyelia (Syringohydromyelia)
- Goodpasture Syndrome
- Diabetes Mellitus Type-II
- Diabetes Mellitus Type-I
- Central Neurofibromatosis
- Pancoast Syndrome
- Achondroplasia
- Paget's Disease (Osteitis Deformans)
- Bronchiolitis
- Polycytic Ovarian Syndrome (PCOS)
- Acute Rheumatic Carditis (Fever)
- Giant Cell (Temporal) Arteritis (Horton's Disease)*
- Subacute Combined Myelopathy
- Hepatocellular Carcinoma
- HIV-1 Infection
- Eisenmenger Syndrome
- Von Willebrand Disease
- Essential Tremor
- Adrenal Insufficiency/Crisis
- Body Fat Redistribution Syndrome (Dyslipidemia)
- Anti-Psychotics
- Primary Pulmonary Hypertension (PPH)
- Trigeminal Neuralgia (Tic Douloureux)
- Polycytic Kidney Disease (PCKD)
- Waterhouse-Friderichsen Syndrome (WFS)
- Vitamin E Deficiency
- Diabetes Insipidus (DI)
- Guillain Barre Syndrome (Maladie de Charcot)
- Ankylosing Spondylitis
- Plasma Cell Myeloma/Multiple Myeloma (MM)
- Cystinuria
- Epidural Hematoma
- Bronchiolitis Obliterans (BO)
- Breast Cancer + Ovarian Cancer
- Lobar Pneumonia
- Arnold Chiari Malformation I & II
- Thyroid Cancer
- Chron's Disease
- Gastric (Upper GIT*) Metastasis
- Hereditary Breast/Ovarian Cancer
- Sydenham Chorea
- Dermititis Herpetiformis/Celiac Disease
- Burkitt's lymphoma
- Pituitary Adenoma
- Duchene Muscular Dystrophy
- Hodgkins Disease
- Amyotrophic Lateral Sclerosis (ALS)
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October
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Leucine, Isoleucine & Valine,
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