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Iminoglycinuria
Genes in Eyecare Geneseyedoc 3 W.M
Hyperglycinuria: a Family Report
European Conference on Rare Diseases
Screening for Inherited Metabolic Disease in Wales Using Urine-Impregnated Filter Paper
Molecular Patterns Behind Immunological and Metabolic Alterations in Lysinuric Protein Intolerance
L's 722 PS 009 601- R
Cooperation of Antiporter LAT2/Cd98hc with Uniporter TAT1 for Renal Reabsorption of Neutral Amino Acids
Diseases Catalogue
Renal Tubular Disorders
Atypical Gyrate Atrophy of Retina and Iminoglycinuria TAKASHI SAITO
SSIEM Classification of Inborn Errors of Metabolism 2011
Prevalence of Inborn Errors of Metabolism in Neonates
Inherited Tubulopathies of the Kidney Insights from Genetics
Kidney Amino Acid Transport
Iminoglycinuria and Hyperglycinuria Are Discrete Human Phenotypes Resulting from Complex Mutations in Proline and Glycine Transporters
Diseases Associated with General Amino Acid Transporters of the Solute Carrier 6 Family (SLC6)
Inborn Error of Metabolism Screening in Neonates
Prevalence of Rare Diseases: Bibliographic Data
Top View
WES Gene Package Metabolic Disorders.Xlsx
Incidence of Inborn Errors of Metabolism in British Columbia, 1969–1996
ORPHA Number Disease Or Group of Diseases 300305 11P15.4
Renal Tubular Transport of Proline, Hydroxyproline, and Glycine: III
Amino Acid Transport Defects in Human Inherited Metabolic Disorders
Loss-Of-Function Mutations in the Glutamate Transporter SLC1A1 Cause Human Dicarboxylic Aminoaciduria
WES Gene Package Metabolic Disorders.Xlsx
Organic Acidemias/Acidurias Precision Panel Overview
Inherited Disorders of Amino Acid Transport in Relation to the Kidney BRUCE A
Urea Cycle Disorders
Ontogeny of Amino Acid Reabsorption in Human Kidney. Evidence from the Homozygous Infant with Familial Renal Iminoglycinuria for Multiple Proline and Glycine Systems
Metabolske Sykdommer V02
WES Gene Package Multiple Congenital Anomalie
Source: State: 12.06.2018 ORPHA68367 10507
Disorders of Intestinal Amino-Acid Transport
Aminoaciduria and Glycosuria in Children
Prevalence and Incidence of Rare Diseases: Bibliographic Data
Prevalence and Incidence of Rare Diseases
Differential Diagnosis of (Inherited) Amino Acid Metabolism Or Transport Disorders
Neutral Amino Acid Transporters of the Kidney and Intestine S
OMIM Mendelian Gene List V2.0
The Fanconi Syndrome and Mechanisms of Tubular Transport Dysfunction KARL S
Orphanet Report Series Rare Diseases Collection
Recessive Gene List V2.0