Book contents
- Neonatology
- Copyright page
- Notice
- Contents
- Preface
- Part One Maternal Conditions and Diseases
- Part Two Neonatal Conditions and Diseases
- 4P-Syndrome (Wolf-Hirschhorn Syndrome)
- 5p-Syndrome
- Adrenal Insufficiency
- Ambiguous Genitalia
- Apert Syndrome
- Apnea of Prematurity
- Atrial Septal Defect
- Biliary Atresia
- Biotinidase Deficiency
- Birth Trauma, Introduction
- Birth Trauma: Brachial Plexus Injury
- Birth Trauma: Cephalohematoma, Subgaleal Hematoma
- Birth Trauma, Intraabdominal Injuries
- Birth Trauma: Intracranial Hemorrhage, Skull Fractures
- Bladder Exstrophy
- Brochogenic Cyst
- Bronchopulmonary Dysplasia (BPD)
- Candidiasis, Congenital
- Candidiasis, Systemic and Catheter-Related Candidemia
- Cardiac Arrhythmias
- Cerebellar Hemorrhage
- CHARGE Syndrome
- Choanal Atresia, Bilateral
- Cloacal Exstrophy
- Coagulopathy
- Coarctation of the Aorta (CoA)
- Congenital Adrenal Hyperplasia
- Congenital Diaphragmatic Hernia
- Conjunctivitis (Ophthalmia Neonatorum)
- Cornelia de Lange Syndrome
- Cri-du-Chat Syndrome (5p-Syndrome)
- Critical Pulmonary Stenosis
- Cruzon Syndrome
- Cystic Adenomatoid Malformation (CCAM), Congenital, Pulmonary
- Cytomegalovirus (CMV) Infection, Perinatal/Nosocomial
- Cytomegalovirus Infection (CMV), Congenital (Transplacental)
- DiGeorge Syndrome (Velo-Cardio-Facial Syndrome)
- Ebstein’s Anomaly of the Tricuspid Valve
- Epidermolysis Bullosa (EB)
- Epispadias/Bladder Exstrophy
- Fatty Acid Oxidation Disorders
- Fetal Alcohol Spectrum Disorders (FASD)
- Galactosemia
- Gastroesophageal Reflux (GER)
- Gastroschisis/Omphalocele
- Glycogen Storage Disease Type 1A (Von Gierke’s Disease)
- Glycogen Storage Disease Type II (Pompe’s Disease)
- Hemorrhagic Disorders in the Newborn, Congenital and Acquired
- Hepatitis, Idiopathic Neonatal Giant Cell
- Herpes Simplex Infection, Intrauterine/Neonatal Infection
- Hip, Developmental Dysplasia (Congenital Dislocation)
- Hirschsprung Disease
- Hydronephrosis, Prenatal
- Hyperthyroidism, Congenital
- Hypoplastic Left Heart Syndrome (HLHS)
- Hypothyroidism, Congenital
- Hypoxic-Ischemic Encephalopathy (HIE)
- Imperforate Anus
- Infarct, Cerebral
- Intestinal Atresia
- Intraventricular Hemorrhage (IVH)
- Lactic Acidemias
- Lobar Emphysema
- Lung Bud Malformations (Congenital Cystic Adenomatoid Malformation, Bronchogenic Cyst, Lobar Emphysema, Pulmonary Sequestration)
- Lysosomal Storage Disorders
- Malrotation
- Maple Syrup Urine Disease
- Meckel’s Diverticulum
- Meconium Aspiration Syndrome (MAS)
- Meconium Ileus
- Medium-Chain Acyl CoA Dehydrogenase Deficiency (MCAD)
- Meningitis
- Muscle Diseases Causing Neonatal Weakness and Hypotonia
- Myasthenia Gravis, Transient and Congenital
- Myotonic Dystrophy, Congenital
- Necrotizing Enterocolitis (NEC)
- Neuroblastoma
- Nonketotic Hyperglycinemia
- Noonan Syndrome
- Omphalocele
- Ornithine Transcarbamylase Deficiency/Urea Cycle Disorders
- Osteomyelitis
- Osteopenia of Prematurity
- Patent Ductus Arteriosus (PDA)
- Persistent Pulmonary Hypertension of the Newborn (PPHN)
- Phenylketonuria, Neonatal
- Pneumothorax, Tension
- Polycythemia
- Pompe’s Disease
- Posterior Urethral Valves
- Prader-Willi Syndrome
- Propionic Acidemia
- Pulmonary Atresia with Intact Ventricular Septum (PA/IVS)
- Pulmonary Atresia With Ventricular Septal Defect
- Pulmonary Sequestration
- Pyelonephritis
- Renal Tubular Acidosis (RTA), Isolated Primary
- Respiratory Distress Syndrome (RDS)
- Retinopathy of Prematurity (ROP)
- Rubenstein-Taybi Syndrome
- Sepsis/Pneumonia, Early-Onset
- Sepsis/Pneumonia, Nosocomial
- Shock
- Stroke, Ischemic, Perinatal and Neonatal
- Subarachnoid Hemorrhage
- Subdural Hemorrhage
- Subgaleal Hematoma
- Testicular Torsion
- Tetralogy of Fallot (TOF)
- Thrombotic Disorders
- Total Anomalous Pulmonary Venous Return (TAPVR) With Obstruction
- Total Anomalous Pulmonary Venous Return (TAPVR) Without Obstruction
- Toxoplasmosis, Congenital (Transplacental)
- Tracheoesophageal Fistula/Esophageal Atresia
- Transient Tachypnea of the Newborn (TTN)
- Transposition of the Great Arteries (TGA)
- Treacher Collins Syndrome
- Tricuspid Atresia
- Trisomy 13
- Trisomy 18
- Trisomy 21
- Truncus Arteriosus
- Tuberculosis, Congenital
- Turner Syndrome
- Tyrosinemia Type I
- Undescended Testis
- Urinary Tract Infection, Pyelonephritis
- Varicella (Chickenpox), Neonatal due to Non-maternal Postnatal Exposure
- VATER Association (VACTERL Association)
- Velo-Cardio-Facial Syndrome
- Ventricular Septal Defect
- Von Gierke’s Disease
- Waardenburg Syndrome (WS)
- Williams Syndrome
- Wilms’ Tumor
- Wolf-Hirschhorn Syndrome
- Part Three Neonatal Presenting Signs
- Part Four Procedures
- Part Five Supportive Care
Tyrosinemia Type I
from Part Two - Neonatal Conditions and Diseases
Published online by Cambridge University Press: 05 November 2011
Book contents
- Neonatology
- Copyright page
- Notice
- Contents
- Preface
- Part One Maternal Conditions and Diseases
- Part Two Neonatal Conditions and Diseases
- 4P-Syndrome (Wolf-Hirschhorn Syndrome)
- 5p-Syndrome
- Adrenal Insufficiency
- Ambiguous Genitalia
- Apert Syndrome
- Apnea of Prematurity
- Atrial Septal Defect
- Biliary Atresia
- Biotinidase Deficiency
- Birth Trauma, Introduction
- Birth Trauma: Brachial Plexus Injury
- Birth Trauma: Cephalohematoma, Subgaleal Hematoma
- Birth Trauma, Intraabdominal Injuries
- Birth Trauma: Intracranial Hemorrhage, Skull Fractures
- Bladder Exstrophy
- Brochogenic Cyst
- Bronchopulmonary Dysplasia (BPD)
- Candidiasis, Congenital
- Candidiasis, Systemic and Catheter-Related Candidemia
- Cardiac Arrhythmias
- Cerebellar Hemorrhage
- CHARGE Syndrome
- Choanal Atresia, Bilateral
- Cloacal Exstrophy
- Coagulopathy
- Coarctation of the Aorta (CoA)
- Congenital Adrenal Hyperplasia
- Congenital Diaphragmatic Hernia
- Conjunctivitis (Ophthalmia Neonatorum)
- Cornelia de Lange Syndrome
- Cri-du-Chat Syndrome (5p-Syndrome)
- Critical Pulmonary Stenosis
- Cruzon Syndrome
- Cystic Adenomatoid Malformation (CCAM), Congenital, Pulmonary
- Cytomegalovirus (CMV) Infection, Perinatal/Nosocomial
- Cytomegalovirus Infection (CMV), Congenital (Transplacental)
- DiGeorge Syndrome (Velo-Cardio-Facial Syndrome)
- Ebstein’s Anomaly of the Tricuspid Valve
- Epidermolysis Bullosa (EB)
- Epispadias/Bladder Exstrophy
- Fatty Acid Oxidation Disorders
- Fetal Alcohol Spectrum Disorders (FASD)
- Galactosemia
- Gastroesophageal Reflux (GER)
- Gastroschisis/Omphalocele
- Glycogen Storage Disease Type 1A (Von Gierke’s Disease)
- Glycogen Storage Disease Type II (Pompe’s Disease)
- Hemorrhagic Disorders in the Newborn, Congenital and Acquired
- Hepatitis, Idiopathic Neonatal Giant Cell
- Herpes Simplex Infection, Intrauterine/Neonatal Infection
- Hip, Developmental Dysplasia (Congenital Dislocation)
- Hirschsprung Disease
- Hydronephrosis, Prenatal
- Hyperthyroidism, Congenital
- Hypoplastic Left Heart Syndrome (HLHS)
- Hypothyroidism, Congenital
- Hypoxic-Ischemic Encephalopathy (HIE)
- Imperforate Anus
- Infarct, Cerebral
- Intestinal Atresia
- Intraventricular Hemorrhage (IVH)
- Lactic Acidemias
- Lobar Emphysema
- Lung Bud Malformations (Congenital Cystic Adenomatoid Malformation, Bronchogenic Cyst, Lobar Emphysema, Pulmonary Sequestration)
- Lysosomal Storage Disorders
- Malrotation
- Maple Syrup Urine Disease
- Meckel’s Diverticulum
- Meconium Aspiration Syndrome (MAS)
- Meconium Ileus
- Medium-Chain Acyl CoA Dehydrogenase Deficiency (MCAD)
- Meningitis
- Muscle Diseases Causing Neonatal Weakness and Hypotonia
- Myasthenia Gravis, Transient and Congenital
- Myotonic Dystrophy, Congenital
- Necrotizing Enterocolitis (NEC)
- Neuroblastoma
- Nonketotic Hyperglycinemia
- Noonan Syndrome
- Omphalocele
- Ornithine Transcarbamylase Deficiency/Urea Cycle Disorders
- Osteomyelitis
- Osteopenia of Prematurity
- Patent Ductus Arteriosus (PDA)
- Persistent Pulmonary Hypertension of the Newborn (PPHN)
- Phenylketonuria, Neonatal
- Pneumothorax, Tension
- Polycythemia
- Pompe’s Disease
- Posterior Urethral Valves
- Prader-Willi Syndrome
- Propionic Acidemia
- Pulmonary Atresia with Intact Ventricular Septum (PA/IVS)
- Pulmonary Atresia With Ventricular Septal Defect
- Pulmonary Sequestration
- Pyelonephritis
- Renal Tubular Acidosis (RTA), Isolated Primary
- Respiratory Distress Syndrome (RDS)
- Retinopathy of Prematurity (ROP)
- Rubenstein-Taybi Syndrome
- Sepsis/Pneumonia, Early-Onset
- Sepsis/Pneumonia, Nosocomial
- Shock
- Stroke, Ischemic, Perinatal and Neonatal
- Subarachnoid Hemorrhage
- Subdural Hemorrhage
- Subgaleal Hematoma
- Testicular Torsion
- Tetralogy of Fallot (TOF)
- Thrombotic Disorders
- Total Anomalous Pulmonary Venous Return (TAPVR) With Obstruction
- Total Anomalous Pulmonary Venous Return (TAPVR) Without Obstruction
- Toxoplasmosis, Congenital (Transplacental)
- Tracheoesophageal Fistula/Esophageal Atresia
- Transient Tachypnea of the Newborn (TTN)
- Transposition of the Great Arteries (TGA)
- Treacher Collins Syndrome
- Tricuspid Atresia
- Trisomy 13
- Trisomy 18
- Trisomy 21
- Truncus Arteriosus
- Tuberculosis, Congenital
- Turner Syndrome
- Tyrosinemia Type I
- Undescended Testis
- Urinary Tract Infection, Pyelonephritis
- Varicella (Chickenpox), Neonatal due to Non-maternal Postnatal Exposure
- VATER Association (VACTERL Association)
- Velo-Cardio-Facial Syndrome
- Ventricular Septal Defect
- Von Gierke’s Disease
- Waardenburg Syndrome (WS)
- Williams Syndrome
- Wilms’ Tumor
- Wolf-Hirschhorn Syndrome
- Part Three Neonatal Presenting Signs
- Part Four Procedures
- Part Five Supportive Care
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- Neonatology , pp. 345 - 346Publisher: Cambridge University PressPrint publication year: 2008