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Cystinuria
Leading Article the Molecular and Genetic Base of Congenital Transport
Cystinosis
What I Tell My Patients About Cystinuria
Amyloid Like Aggregates Formed by the Self-Assembly of Proline And
ACVIM Giger Cyst+Fanconi 2014F
Cystinosis: Antibodies and Healthy Bodies
The PAH Gene, Phenylketonuria, and a Paradigm Shift
Alkaptonuria
Early Diagnosis of Classic Homocystinuria in Kuwait Through Newborn Screening: a 6-Year Experience
ISCA Disease List
Leukocyte and Liver Glutaminase in Lysinuric Protein Intolerance
Prenatal Microarray Disorders List V19.1
Supplemental Canine Cystine Information
Homocystinuria Due to Cystathionine Β-Synthase Deficiency
Urea-Cycle Disorders As a Paradigm for Inborn Errors of Hepatocyte Metabolism
Pharmacological Treatment of Monogenic Disease DJ Weatherall 265
Inherited Enzyme Defects: a Review
Genomeposter2009.Pdf
Top View
Inborn Errors of Metabolism
Pathophysiology of Immune-Related Complications in Lysinuric Protein Intolerance
The Use of Gas Chromatography-Mass Spectrometry for the Diagnosis and Study of Metabolic Disorders I
Hartnup Disease Masked by Kwashiorkor
Hereditary Tyrosinemia Type 1", Seminars in Liver Disease, Vol
The Challenges of Cystinuria in the Twenty-First Century – a Mini Review Louise F
The Morbid Anatomy of the Human Genome: Chromosomal Location of Mutations Causing Disease
Treatment of Homocystinuria
Fall-Winter 2020
Inborn Errors of Metabolism" II
The Father of Precision Medicine
ORPHA Number Disease Or Group of Diseases 300305 11P15.4
Urinary Metabolic Profiling for Detection of Metabolic Disorders
Inborn Errors of Metabolism Page 1 of 8
Amino Acid Transport Defects in Human Inherited Metabolic Disorders
Fanconi Syndrome Are on the Rise in Parts (Jamieson and Chandler, 2001)
Skeletal Abnormalities in Homocystinuria D
Research of Cystinuria in Bulldogs Looks for Genetic Cause
What Is Cystinuria and What Are Its Symptoms?
Cystinuria: Mechanisms and Management
Patient Information Cystinuria
Newborndxtm Advanced Sequencing Evaluation Disorders List
Cystinuria – Information for Patients
Inherited Disorders of Amino Acid Transport in Relation to the Kidney BRUCE A
Descriptions of Phenotypes
Metabolske Sykdommer V02
Large Prostatic Calculus in an Alkaptonuria Patient – Caught Unaware
Alkaptonuria- an Inborn Error of Amino Acid Metabolism
Cystinosis by D
Ophthalmic Abnormalities in Homocystinuria
Source: State: 12.06.2018 ORPHA68367 10507
Technical Methods Technical Methods Result J Clin Pathol: First Published As 10.1136/Jcp.23.1.90 on 1 February 1970
The Intestinal Absorption Defect in Cystinuria
Prevalence and Incidence of Rare Diseases: Bibliographic Data
Prevalence and Incidence of Rare Diseases
Hyperornithinemia, Hyperammonernia, and Homocitrullinuria Associated with Decreased Carbamyl Phosphate Synthetase I Activity
The Fanconi Syndrome and Mechanisms of Tubular Transport Dysfunction KARL S
CYSTINURIA by CUTHBERT E
Recessive Gene List V2.0
Transport of Dibasic Amino Acids, Cystine, and Tryptophan by Cultured Human Fibroblasts: Absence of a Defect in Cystinuria and Hartnup Disease