'Inborn errors' presentation slideshows

Humans are 0.1% different

Humans are 0.1% different. : 80% of this is from small scale structural variants in our DNA : the SNPs ( pronounces snips) ( 1 nucleotide change)

995 views • 89 slides

The Newborn Examination

0. The Newborn Examination. Karen Montgomery-Reagan, D.O. OUCOM Department of Pediatrics. Overview. Review birth Hx and VS Listen to heart while infant quiet: Cardiovascular- inspection, palpation, and auscultation

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880 views • 69 slides

11/7/05 Protein Structure: Classification, Databases, Visualization

11/7/05 Protein Structure: Classification, Databases, Visualization. Announcements. BCB 544 Projects - Important Dates: Nov 2 Wed noon - Project proposals due to David/Drena Nov 4 Fri PM - Approvals/responses & tentative presentation schedule to students

878 views • 68 slides

1.54k views • 66 slides

1.14k views • 66 slides

Inborn Errors of Metabolism(IEM) Lecture 1

Inborn Errors of Metabolism(IEM) Lecture 1. SDK December 24, 2013. Objectives. Define Inborn error of metabolism Identify the most common errors Explains the mechanism of Inborn error of metabolism. Explain the dietary plan for IEM. Inborn Errors of Metabolism.

1.39k views • 61 slides

Ketogenic Diet and Inborn Errors of Metabolism

685 views • 54 slides

Inborn errors of Metabolism

1.43k views • 48 slides

Reaching Out. Touching Lives. Adding Value!

724 views • 46 slides

Growth disturbances

564 views • 34 slides

CACFP Infant Meal Pattern Requirements

CACFP Infant Meal Pattern Requirements. Before We Begin. Print a copy of Guidance Memorandum #12C via the links provided in this webcast Infant Meal Pattern Infant Meal Notification

477 views • 33 slides

Emilia Lim

477 views • 30 slides

Endocrine Disorders in the Pediatric Client

Endocrine Disorders in the Pediatric Client. MARLENE MEADOR , RN, MSN, CNE. Understanding the endocrine system in children. Puberty brings many changes ?GH released ? production of LH and FSH in girls Development of sexual characteristics Feedback mechanism in place.

700 views • 26 slides

ABNORMALITIES OF THYROID FUNCTION

ABNORMALITIES OF THYROID FUNCTION. ENDO BLOCK 412. Dr. Shaikh Mujeeb Ahmed Assistant Professor AlMaarefa College. Objectives. The student should be able to: Describe the etiology, symptoms and treatment of thyrotoxicosis and hypothyroidism . Abnormalities. Hypothyroidism

401 views • 19 slides

A slide set provided by Prof Miguel A Penalva

The use of Aspergillus nidulans to identify the genetic defect responsible for the human metabolic disorders Alkaptonuria and Type I Tyrosinemia. A slide set provided by Prof Miguel A Penalva. Centro de Investigaciones Biologicas del CSIC, Madrid 28006, Spain.

175 views • 17 slides

The Central Dogma of Molecular Genetics

The Central Dogma of Molecular Genetics. Inborn Errors of Metabolism. Archibald Garrod (British, 1857-1936) The relationship between genes and proteins was first proposed by Garrod in 1908

469 views • 15 slides

Status epilepticus

Status epilepticus. Amrita Bhagat ER Conference September 9, 2011. Question 1.

441 views • 15 slides