عنوان

JIMD reports.

شابک

3662536811

شابک

9783662536810

شابک اشتباه

9783662536803

شماره

b435263

عنوان اصلي

JIMD reports.

نام عام مواد

[Book]

نام نخستين پديدآور

Eva Morava, editor-in-chief ; Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, editors ; Verena Peters, managing editor

مشخصه جلد

Volume 30 /

نام خاص و کميت اثر

1 online resource

متن يادداشت

Multidisciplinary Team Approach Is Key for Managing Pregnancy and Delivery in Patient with Rare, Complex MPS I -- Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux?Lamy Syndrome -- A New Approach for Fast Metabolic Diagnostics in CMAMMA -- Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum -- ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis -- Chronic Oral l-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions -- A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria -- Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency -- Acute Metabolic Crises in Maple Syrup Urine Disease After Liver Transplantation from a Related Heterozygous Living Donor -- Identification of Cryptic Novel ?-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions -- Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency -- Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency -- A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV -- The Effect of Multiple Sulfatase Deficiency (MSD) on Dental Development: Can We Use the Teeth as an Early Diagnostic Tool? -- Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures -- Erratum to: Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures

بدون عنوان

0

موضوع مستند نشده

Metabolism-- Disorders

موضوع مستند نشده

Metabolism, Inborn errors of

شماره

شماره

ويراست

شماره رده

مستند نام اشخاص تاييد نشده

Baumgartner, Matthias R.

مستند نام اشخاص تاييد نشده

Morava, Eva

مستند نام اشخاص تاييد نشده

Patterson, Marc

مستند نام اشخاص تاييد نشده

Peters, Verena

مستند نام اشخاص تاييد نشده

Rahman, Shamima

مستند نام اشخاص تاييد نشده

Zschocke, Johannes

مستند نام تنالگان تاييد نشده

Ohio Library and Information Network

تاريخ عمليات

20161209100125.6

قواعد فهرست نويسي ( بخش توصيفي )

pn

نام الکترونيکي

نوع ماده

[Book]

تكميل شده

Y