JIMD Reports - JIMD Reports, Volume 18

Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation

JIMD Reports - JIMD Reports, Volume 18 ◽

10.1007/8904_2014_353 ◽

2014 ◽

pp. 85-92 ◽

Cited By ~ 8

Author(s):

M. J. Fraidakis ◽

C. Liadinioti ◽

L. Stefanis ◽

A. Dinopoulos ◽

R. Pons ◽

...

Keyword(s):

Late Onset ◽

Glutaric Aciduria Type ◽

Type I ◽

Glutaric Aciduria ◽

Glutaric Aciduria Type I

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The Biological Clock and the Molecular Basis of Lysosomal Storage Diseases

JIMD Reports - JIMD Reports, Volume 18 ◽

10.1007/8904_2014_354 ◽

2014 ◽

pp. 93-105 ◽

Cited By ~ 3

Author(s):

Gianluigi Mazzoccoli ◽

Tommaso Mazza ◽

Manlio Vinciguerra ◽

Stefano Castellana ◽

Maurizio Scarpa

Keyword(s):

Molecular Basis ◽

Biological Clock ◽

Lysosomal Storage Diseases ◽

Lysosomal Storage ◽

Storage Diseases

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Neurodevelopmental Profiles of Children with Glutaric Aciduria Type I Diagnosed by Newborn Screening: A Follow-Up Case Series

JIMD Reports - JIMD Reports, Volume 18 ◽

10.1007/8904_2014_360 ◽

2014 ◽

pp. 125-134 ◽

Cited By ~ 8

Author(s):

Amy Brown ◽

Louise Crowe ◽

Miriam H. Beauchamp ◽

Vicki Anderson ◽

Avihu Boneh

Keyword(s):

Newborn Screening ◽

Case Series ◽

Glutaric Aciduria Type ◽

Type I ◽

Glutaric Aciduria ◽

Glutaric Aciduria Type I

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Cognitive Function in Adults Aging with Fabry Disease: A Case–Control Feasibility Study Using Telephone-Based Assessments

JIMD Reports - JIMD Reports, Volume 18 ◽

10.1007/8904_2014_346 ◽

2014 ◽

pp. 41-50 ◽

Cited By ~ 3

Author(s):

Virginia G. Wadley ◽

Leslie A. McClure ◽

David G. Warnock ◽

Caroline L. Lassen-Greene ◽

Robert J. Hopkin ◽

...

Keyword(s):

Cognitive Function ◽

Fabry Disease ◽

Feasibility Study ◽

Case Control

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Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III

JIMD Reports - JIMD Reports, Volume 18 ◽

10.1007/8904_2014_350 ◽

2014 ◽

pp. 63-68 ◽

Cited By ~ 27

Author(s):

Lindsey Welling ◽

Jan Pieter Marchal ◽

Peter van Hasselt ◽

Ans T. van der Ploeg ◽

Frits A. Wijburg ◽

...

Keyword(s):

Stem Cell ◽

Stem Cell Transplantation ◽

Cord Blood ◽

Cell Transplantation ◽

Umbilical Cord ◽

Umbilical Cord Blood ◽

Neurological Deterioration ◽

Mucopolysaccharidosis Type ◽

Type Iii ◽

Mucopolysaccharidosis Type Iii

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Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?

JIMD Reports - JIMD Reports, Volume 18 ◽

10.1007/8904_2014_358 ◽

2014 ◽

pp. 117-124 ◽

Cited By ~ 19

Author(s):

Danique van Vliet ◽

Esther van Dam ◽

Margreet van Rijn ◽

Terry G. J. Derks ◽

Gineke Venema-Liefaard ◽

...

Keyword(s):

Tyrosinemia Type 1

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Regression of Hepatocellular Adenomas with Strict Dietary Therapy in Patients with Glycogen Storage Disease Type I

JIMD Reports - JIMD Reports, Volume 18 ◽

10.1007/8904_2014_344 ◽

2014 ◽

pp. 23-32 ◽

Cited By ~ 18

Author(s):

Richard D. Beegle ◽

Laurie M. Brown ◽

David A. Weinstein

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Dietary Therapy ◽

Type I ◽

Hepatocellular Adenomas

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Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario

JIMD Reports - JIMD Reports, Volume 18 ◽

10.1007/8904_2014_351 ◽

2014 ◽

pp. 69-77 ◽

Cited By ~ 3

Author(s):

A. Ferrand ◽

V. M. Siu ◽

C. A. Rupar ◽

M. P. Napier ◽

O. Y. Al-Dirbashi ◽

...

Keyword(s):

Intrinsic Factor ◽

Old Order ◽

Old Order Mennonite ◽

B12 Deficiency

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Treatment Adherence in Type 1 Hereditary Tyrosinaemia (HT1): A Mixed-Method Investigation into the Beliefs, Attitudes and Behaviour of Adolescent Patients, Their Families and Their Health-Care Team

JIMD Reports - JIMD Reports, Volume 18 ◽

10.1007/8904_2014_337 ◽

2014 ◽

pp. 13-22 ◽

Cited By ~ 6

Author(s):

Sumaira Malik ◽

Sinead NiMhurchadha ◽

Christina Jackson ◽

Lina Eliasson ◽

John Weinman ◽

...

Keyword(s):

Health Care ◽

Treatment Adherence ◽

Mixed Method ◽

Health Care Team ◽

Care Team ◽

Adolescent Patients

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Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux–Lamy Syndrome)

JIMD Reports - JIMD Reports, Volume 18 ◽

10.1007/8904_2014_333 ◽

2014 ◽

pp. 1-11 ◽

Cited By ~ 9

Author(s):

Adrian Quartel ◽

Christian J. Hendriksz ◽

Rossella Parini ◽

Sue Graham ◽

Ping Lin ◽

...

Keyword(s):

Growth Charts ◽

Mucopolysaccharidosis Vi

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JIMD Reports - JIMD Reports, Volume 18
Latest Publications

TOTAL DOCUMENTS

H-INDEX

Published By Springer Berlin Heidelberg

Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation

The Biological Clock and the Molecular Basis of Lysosomal Storage Diseases

Neurodevelopmental Profiles of Children with Glutaric Aciduria Type I Diagnosed by Newborn Screening: A Follow-Up Case Series

Cognitive Function in Adults Aging with Fabry Disease: A Case–Control Feasibility Study Using Telephone-Based Assessments

Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III

Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?

Regression of Hepatocellular Adenomas with Strict Dietary Therapy in Patients with Glycogen Storage Disease Type I

Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario

Treatment Adherence in Type 1 Hereditary Tyrosinaemia (HT1): A Mixed-Method Investigation into the Beliefs, Attitudes and Behaviour of Adolescent Patients, Their Families and Their Health-Care Team

Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux–Lamy Syndrome)

Export Citation Format

JIMD Reports - JIMD Reports, Volume 18Latest Publications

TOTAL DOCUMENTS

H-INDEX

Published By Springer Berlin Heidelberg

Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation

The Biological Clock and the Molecular Basis of Lysosomal Storage Diseases

Neurodevelopmental Profiles of Children with Glutaric Aciduria Type I Diagnosed by Newborn Screening: A Follow-Up Case Series

Cognitive Function in Adults Aging with Fabry Disease: A Case–Control Feasibility Study Using Telephone-Based Assessments

Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III

Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?

Regression of Hepatocellular Adenomas with Strict Dietary Therapy in Patients with Glycogen Storage Disease Type I

Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario

Treatment Adherence in Type 1 Hereditary Tyrosinaemia (HT1): A Mixed-Method Investigation into the Beliefs, Attitudes and Behaviour of Adolescent Patients, Their Families and Their Health-Care Team

Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux–Lamy Syndrome)

JIMD Reports - JIMD Reports, Volume 18
Latest Publications