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Cystinosis
Cystinosis
Novel Insights Into the Pathophysiology of Kidney Disease in Methylmalonic Aciduria
Disease Reference Book
Standards of Care
AMERICAN ACADEMY of PEDIATRICS Reimbursement For
L-Cystine, from Non-Animal Source Cell Culture Tested, Meets EP Testing Specifications
The Renal Fanconi Syndrome in Cystinosis: Pathogenic Insights and Therapeutic Perspectives
Natalis Information Sheet V03
Cystinosis: Antibodies and Healthy Bodies
Adult Complications of Nephropathic Cystinosis: a Systematic Review
Renal Phenotype of the Cystinosis Mouse Model Is Dependent Upon Genetic Background
Genetics 221A
Lysosomal Cystine Transport in Cystinosis Variants and Their Parents
European Society for Phenylketonuria - E.S.PKU
Inherited Tubulopathies of the Kidney Insights from Genetics
Ophthalmic Evaluation of Diagnosed Cases of Eye Cystinosis: a Tertiary Care Center’S Experience
Liver Transplantation for Pediatric Metabolic Disease☆
The Dietary Treatmentof Phenylketonuria
Top View
Inherited Metabolic Disorders Involving The
The Ocular Anomalies in a Cystinosis Animal Model Mimic Disease Pathogenesis
Treating Genetic Diseases: Lessons from Three Children
Glycerol Phenylbutyrate
Type 1 Tyrosinemia with Hypophosphatemic Rickets: a Case Report
Molecular Analysis of Cystinosis: Probable Irish Origin of the Most Common French Canadian Mutation
Cystinosis. Intracellular Cystine Depletion by Aminothiols in Vitro and in Vivo
Treatment of Homocystinuria
Fall-Winter 2020
Metabolic Problems in Pediatrics Metabolic Problems in Pediatrics H.E
Inborn Errors of Metabolism Associated with Hyperglycaemic Ketoacidosis and Diabetes Mellitus: Narrative Review Majid Alfadhel* (1,2), Amir Babiker (2,3)
Intellectual and Motor Performance, Quality of Life and Psychosocial Adjustment in Children with Cystinosis
Genetic Burden Linked to Founder Effects in Saguenay-Lac-Saint-Jean
Renal Tubular Transport of Proline, Hydroxyproline, and Glycine: III
Amino Acid Transport Defects in Human Inherited Metabolic Disorders
Cystinosis: an Update
Foresight™ Carrier Screen Disease List
Inherited Disorders of Amino Acid Transport in Relation to the Kidney BRUCE A
Congenital Metabolic Disorders Hs-1060
UCSD Biochemical Genetics/Cystine Lab Requisition
Neurometabolic Disorders
Long-Term Renal Outcome in Methylmalonic Acidemia In
Renal Growth in Isolated Methylmalonic Acidemia
Understanding Cystinosis
Dr. Louis Isaac Woolf: at the Forefront of Newborn Screening and the Diet to Treat Phenylketonuria—Biography to Mark His † 100Th Birthday
Rare Disease Registries in Europe - June 2020 2
Cystinosis by D
L -Cystine (C8755)
Aminoaciduria and Glycosuria in Children
Inherited Metabolic Diseases (IMD) Program List of Disorders, Covered Drugs, Supplements and Specialty Foods
CYSTINOSIS-2002.Pdf
On the Enzymic Defects in Hereditary Tyrosinemia*
Adjuvant Treatment for Phenylketonuria (PKU) Comparative Effectiveness Review Number 56
Ocular Involvement in Homocystinuria* by E
CLINICAL CONFERENCE Cystinosis by Norman Kretchmer, M.D
The Renal Handling of Carnitine in Patients with Selective Tubulopathy and with Fanconi Syndrome
The Fanconi Syndrome and Mechanisms of Tubular Transport Dysfunction KARL S
Cystinosis: a Review Mohamed A
Children's Special Health Services
42 Cystinosis