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Hartnup disease
Amino Acid Disorders
Neutral Amino Acids in the Urine [5-7]
Hartnup Disease
Diagnosis and Treatment of Tyrosinosis
Treatable Inborn Errors of Metabolism Presenting As Cerebral Palsy Mimics
Molecular Patterns Behind Immunological and Metabolic Alterations in Lysinuric Protein Intolerance
Hartnup Disease in Psychiatric Practice: Clinical and Biochemical Features of Three Cases by L
Inborn Errors of Metabolism As a Cause of Neurological Disease in Adults: an Approach to Investigation
Table I. Genodermatoses with Known Gene Defects 92 Pulkkinen
Hematologic Aberrations in Metabolic Diseases
A Defect in Tryptophan Metabolism
1 a Clinical Approach to Inherited Metabolic Diseases
171151-Res-2-At Working Copy.Xlsx
Excluded Conditions
Iminoglycinuria and Hyperglycinuria Are Discrete Human Phenotypes Resulting from Complex Mutations in Proline and Glycine Transporters
Inborn Errors of Metabolism: Disorder of Adults?
Diseases Associated with General Amino Acid Transporters of the Solute Carrier 6 Family (SLC6)
The Use of Gas Chromatography-Mass Spectrometry for the Diagnosis and Study of Metabolic Disorders I
Top View
Aase–Smith Syndrome, 231 Abboud, M.R., 381 Abdallat Syndrome, 196
Hartnup Disease Masked by Kwashiorkor
ORPHA Number Disease Or Group of Diseases 300305 11P15.4
Hartnup Disease: MR Findings Tract Could Be Followed from the Cutaneous Lesion Across the Dura to the Thoracic Cord Between the Dorsal Columns
Natural History of Hartnup Disease
Amino Acid Transport Defects in Human Inherited Metabolic Disorders
Transport of L-Cystine by Cultivated Skin Fibroblasts of Normal Subjects and Patients with Cystinosis
Formation of Apoptosis‐Inducing Amyloid Fibrils by Tryptophan
ICD-10 CSHCS-Qualifying Diagnosis Code
Inherited Disorders of Amino Acid Transport in Relation to the Kidney BRUCE A
Review Article J Med Genet: First Published As 10.1136/Jmg.31.4.265 on 1 April 1994
Descriptions of Phenotypes
Hartnup Disease'
Metabolite Amyloid-Like Fibrils Interact with Model Membranes
Boards' Fodder #2
Inherited Metabolic Disorders Presenting with Ataxia
Treatable Genetic Diseases Are Enriched in the General Psychiatric Population
Type 1 Established Condition List
Source: State: 12.06.2018 ORPHA68367 10507
The Intestinal Absorption Defect in Cystinuria
Aminoacidurias
Disorders of Intestinal Amino-Acid Transport
Aminoaciduria and Glycosuria in Children
Table 3. Disorders in Which Vitamin B6 Preparations
Inhibiting Neutral Amino Acid Transport for the Treatment of Phenylketonuria
Six Month Competency for 5600 Techs (New Trainees)
Prevalence and Incidence of Rare Diseases: Bibliographic Data
Prevalence and Incidence of Rare Diseases
Clinical Aspects of Renal Tubular Disorders*
Circumvention of Defective Neutral Amino Acid Transport in Hartnup Disease Using Tryptophan Ethyl Ester
Hartnup Disorder Is Caused by Mutations in the Gene Encoding the Neutral Amino Acid Transporter SLC6A19
Transport of Dibasic Amino Acids, Cystine, and Tryptophan by Cultured Human Fibroblasts: Absence of a Defect in Cystinuria and Hartnup Disease