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- Methylmalonic Acidemia (MUT) Information for Health Professionals
- Cobalamin Disorders (Cbl A,B) and Methylmalonic Acidemia (MUT)
- Carrier Screening Panel
- Ornithine Transcarbamylase Deficiency
- Liver Transplantation for Pediatric Metabolic Disease☆
- Urea Cycle Disorders
- Inborn Errors of Metabolism
- Inherited Metabolic Disorders Involving The
- Suggested Follow-Up for Tyrosinemia Type I, Elevated Succinylacetone
- A Case of Severe Transient Hyperammonemia in a Newborn
- Whole Exome Sequencing Gene Package Metabolic Disorders, Version 5.1, 31-1-2020
- The Pharmabiotic Approach to Treat Hyperammonemia
- A Brief Review on Citrullinemia Type1: a Urea Cycle Disorder Venkatesh HA* Consultant Neonatologist, Manipal Hospital, Bangalore, India *Corresponding Author: Dr
- Type I Tyrosinemia: Lack of Immunologically Detectable Fumarylacetoacetase Enzyme Protein in Tissues and Cell Extracts
- Glycerol Phenylbutyrate
- Early Detection and Treatment Important in Managing Inborn Errors of Metabolism
- A Treatable Genetic Liver Disease Warranting Urgent Diagnosis
- Ornithine Translocase Deficiency
- Summary of Louisiana Newborn Screening Disorders
- Metabolic Problems in Pediatrics Metabolic Problems in Pediatrics H.E
- Letter to the Editor: Lysine Intolerance in Methylmalonic Acidemia
- Clinico-Radiological Phenotyping and Diagnostic Pathways in Childhood Neurometabolic Disorders—A Practical Introductory Guide
- ORPHA Number Disease Or Group of Diseases 300305 11P15.4
- Amino Acid Transport Defects in Human Inherited Metabolic Disorders
- Mutase Which Converts Methylmalonyl-Coa to Succinyl-Coa Or from Lack of the Required B12.Cofactor for Methylmalony-Coa Mutase (Cobalamin A, B, C, D, and F)
- Tyrosinemia Type I: Clinical and Biochemical Analysis of Patients in Mexico
- Newborn Screening ACT Sheet [Increased Citrulline]
- Newborn Screening ACT Sheet (Increased Arginine)
- Disease Name Citrullinemia Type II
- Guidelines for Propionic Acidemia and Methylmalonic Academia Patients Undergoing Liver Transplant
- Citrullinemia/Argininosuccinic Aciduria – Amino Acid Disorders
- Oregon Newborn Bloodspot Screening Practitioner's Manual
- WES Gene Package Metabolic Disorders.Xlsx
- CT and MR Studies of Methylmalonic Acidemia
- The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening
- TCR Template
- Prevalence and Incidence of Rare Diseases: Bibilographic Data
- Citrulline Amino Aciduria/Urea Cycle Disorder Amino Aciduria/Urea Cycle
- Commentary Phenylketonuria: Old Disease, New Approach to Treatment
- Elevated Arginine Family Fact Sheet
- Consensus Guidelines for Management of Hyperammonaemia in Paediatric Patients Receiving Continuous Kidney Replacement Therapy
- A Novel Class of Living Medicines
- Metabolske Sykdommer V02
- Amino Acid Disorders
- Inborn Errors of Proline Metabolism1–3
- Proposed Guidelines for the Diagnosis and Management of Methylmalonic
- Health Care Provider Manual: the Complete Guide to Newborn
- Source: State: 12.06.2018 ORPHA68367 10507
- A Review of Ornithine Transcarbamylase Deficiency (OTCD)
- Aminoaciduria and Glycosuria in Children
- Inherited Metabolic Diseases (IMD) Program List of Disorders, Covered Drugs, Supplements and Specialty Foods
- Diseases Tested – Preconception Genetic Carrier Screen
- Lethal Hyperammonemia Due to Ornithine Transcarbamylase
- Current Perspectives on Neonatal Screening for Propionic
- Increased Citrulline Amino Aciduria/Urea Cycle Disorder
- Prevalence and Incidence of Rare Diseases: Bibliographic Data
- Prevalence and Incidence of Rare Diseases
- Inborn Errors of Metabolism in Infancy: a Guide to Diagnosis
- Elevated C3 Acylcarnitine Propionic Acidemia and Methylmalonic Acidemia
- Acute Management of Propionic Acidemia
- OMIM Mendelian Gene List V2.0
- Plasma and Muscle Free Carnitine Deficiency Due to Renal Fanconi Syndrome
- Acute Fatal Presentation of Ornithine Transcarbamylase Deficiency in A
- Anesthesia Implications of Syndromes and Unusual Disorders 1
- Questions Health Care Providers Frequently Ask