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JIMD Reports
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April 7, 2025
Neonatal Cholestasis Progressing to a Multisystem Syndrome With Liver Cirrhosis in Two Siblings With FARSA Deficiency: An Evolving Hepatological Phenotype
Y Aelvoet, P Verloo, A Vanlander, et al.
JIMD Reports
|
June 16, 2025
Placenta Pathologies in Two Patients With Glycogen Storage Disease Type Ia and Preeclampsia
V Laufs, A Hasenburg, M A Busch, et al.
JIMD Reports
|
May 16, 2025
Benefits of Integrated Social Care in the Management of Patients With Inborn Errors of Metabolism
A Selvanathan, S Nazir, K van Wyk, et al.
JIMD Reports
|
May 8, 2025
Nutrition With Skimmed Breast Milk in an Infant With Long Chain 3-Hydroxyacyl-coA Dehydrogenase Deficiency
Clara Alonso-Diaz, Diana Escuder-Vieco, Pilar Quijada-Fraile, et al.
JIMD Reports
|
May 7, 2025
Treatment and Improved Outcomes of Three Adult Patients With Guanidinoacetate Methyltransferase (GAMT) Deficiency
Angela Lee, Judith Weisenberg, Elizabeth Toolan, et al.
JIMD Reports
|
May 10, 2013
Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses
Nancy J Mendelsohn, Timothy Wood, Rebecca A Olson, et al.
JIMD Reports
|
April 13, 2013
Outcome of perinatal hypophosphatasia in manitoba mennonites: a retrospective cohort analysis
Edward C W Leung, Aizeddin A Mhanni, Martin Reed, et al.
JIMD Reports
|
February 23, 2013
Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency
A A M Morris, S E Olpin, M J Bennett, et al.
JIMD Reports
|
February 23, 2013
Quality of life of brazilian patients with Gaucher disease and fabry disease
Fabiane Lopes Oliveira, Taciane Alegra, Alicia Dornelles, et al.
JIMD Reports
|
February 23, 2013
Urinary neopterin and phenylalanine loading test as tools for the biochemical diagnosis of segawa disease
Vincenzo Leuzzi, Claudia Carducci, Flavia Chiarotti, et al.
Page
of 125
Search research articles
Search
Showing results (641-650 of 1,250) with videos related to
Sort By:
Page
of 125
JIMD Reports
|
April 7, 2025
Neonatal Cholestasis Progressing to a Multisystem Syndrome With Liver Cirrhosis in Two Siblings With FARSA Deficiency: An Evolving Hepatological Phenotype
Y Aelvoet, P Verloo, A Vanlander, et al.
JIMD Reports
|
June 16, 2025
Placenta Pathologies in Two Patients With Glycogen Storage Disease Type Ia and Preeclampsia
V Laufs, A Hasenburg, M A Busch, et al.
JIMD Reports
|
May 16, 2025
Benefits of Integrated Social Care in the Management of Patients With Inborn Errors of Metabolism
A Selvanathan, S Nazir, K van Wyk, et al.
JIMD Reports
|
May 8, 2025
Nutrition With Skimmed Breast Milk in an Infant With Long Chain 3-Hydroxyacyl-coA Dehydrogenase Deficiency
Clara Alonso-Diaz, Diana Escuder-Vieco, Pilar Quijada-Fraile, et al.
JIMD Reports
|
May 7, 2025
Treatment and Improved Outcomes of Three Adult Patients With Guanidinoacetate Methyltransferase (GAMT) Deficiency
Angela Lee, Judith Weisenberg, Elizabeth Toolan, et al.
JIMD Reports
|
May 10, 2013
Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses
Nancy J Mendelsohn, Timothy Wood, Rebecca A Olson, et al.
JIMD Reports
|
April 13, 2013
Outcome of perinatal hypophosphatasia in manitoba mennonites: a retrospective cohort analysis
Edward C W Leung, Aizeddin A Mhanni, Martin Reed, et al.
JIMD Reports
|
February 23, 2013
Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency
A A M Morris, S E Olpin, M J Bennett, et al.
JIMD Reports
|
February 23, 2013
Quality of life of brazilian patients with Gaucher disease and fabry disease
Fabiane Lopes Oliveira, Taciane Alegra, Alicia Dornelles, et al.
JIMD Reports
|
February 23, 2013
Urinary neopterin and phenylalanine loading test as tools for the biochemical diagnosis of segawa disease
Vincenzo Leuzzi, Claudia Carducci, Flavia Chiarotti, et al.
Page
of 125