JIMD Reports, Volume 20

Chapter 367 Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings

Chapter 381 Expanding Our Understanding of Lower Urinary Tract Symptoms and Incontinence in Adults with Pompe Disease.

Chapter 382 Carnitine-Acylcarnitine Translocase Deficiency: Experience with Four Cases in Spain and Review of the Literature

Chapter 383 Lack of Glibenclamide Response in a Case of Permanent Neonatal Diabetes Caused by Incomplete Inactivation of Glucokinase

Chapter 385 Morphology and Function of Cerebral Arteries in Adults with Pompe Disease

Chapter 386 Parkinsonism in Phenylketonuria: A Consequence of Dopamine Depletion?

Chapter 388 Characterization of Variegate Porphyria Mutations Using a Minigene Approach

Chapter 390 Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers

Chapter 391 Tandem Duplication of Exons 1–7 Neither Impairs ATP7A Expression Nor Causes a Menkes Disease Phenotype

Chapter 392 Outcome of Patients with Classical Infantile Pompe Disease Receiving Enzyme Replacement Therapy in Germany.

Chapter 395 Long-Term Functional Outcomes of Children with Hurler Syndrome Treated with Unrelated Umbilical Cord Blood Transplantation

Chapter 397 A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature

Chapter 398 Carnitine Levels in Skeletal Muscle, Blood, and Urine in Patients with Primary Carnitine Deficiency During Intermission of l -Carnitine Supplementation

Chapter 400 Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula