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Showing results for ISSN matching 0141-8955

Global loss of bone, muscle, and fat mass in a patient with juvenile Paget disease (hereditary hyperphosphatasia)

JOURNAL ARTICLE published November 2022 in Journal of Inherited Metabolic Disease

Authors: Stavroula J. Theodorou | Daphne J. Theodorou

https://doi.org/10.1002/jimd.12559 Actions

Issue Information

JOURNAL ARTICLE published July 2021 in Journal of Inherited Metabolic Disease

https://doi.org/10.1002/jimd.12259 Actions

Late onset type of propionic acidaemia: Case report and biochemical studies

JOURNAL ARTICLE published December 1981 in Journal of Inherited Metabolic Disease

Authors: B. Merinero | J. A. DelValle | A. Jiménez | M. J. Garcia | M. Ugarte | R. Solaguren | O. López | I. Condado

https://doi.org/10.1007/bf02263596 Actions

A patient with lactic acidaemia and cytochrome oxidase deficiency

JOURNAL ARTICLE published June 1983 in Journal of Inherited Metabolic Disease

Authors: F. Trijbels | R. Sengers | L. Monnens | A. Janssen | J. Willems | H. Ter Laak | A. Stadhouders

https://doi.org/10.1007/bf01810360 Actions

Bony changes of PKU neonates unrelated to phenylalanine levels

JOURNAL ARTICLE published November 1991 in Journal of Inherited Metabolic Disease

Authors: R. O. Fisch | S. B. Feinberg | S. Weisberg | D. Day

https://doi.org/10.1007/bf01800469 Actions

Relation between phenylalanine hydroxylase genotypes and phenotypic parameters of diagnosis and treatment of hyperphenylalaninaemic disorders

JOURNAL ARTICLE published May 1994 in Journal of Inherited Metabolic Disease

Authors: U. Lichter‐Konecki | A. Rupp | D. S. Konecki | F. K. Trefz | H. Schmidt | P. Burgard

https://doi.org/10.1007/bf00711831 Actions

The A985G mutation in the medium‐chain acyl‐CoA dehydrogenase gene: high prevalence in the swiss population resident in Geneva

JOURNAL ARTICLE published September 1995 in Journal of Inherited Metabolic Disease

Authors: B. Conne | R. Zufferey | D. Belin

https://doi.org/10.1007/bf02436002 Actions

Acylcarnitines in plasma and blood spots of patients with long‐chain 3‐hydroxyacyl‐coenzyme A dehydrogenase defiency

JOURNAL ARTICLE published September 2000 in Journal of Inherited Metabolic Disease

Authors: J. L. K. Van Hove | S. G. Kahler | M. D. Feezor | J. P. Ramakrishna | P. Hart | W. R. Treem | J.‐J. Shen | D. Matern | D. S. Millington

https://doi.org/10.1023/a:1005673828469 Actions

The analysis of plasma and urinary organic acids during prolonged fasting differentiates between systemic carnitine deficiency and a defect of fatty acid oxidation

JOURNAL ARTICLE published June 1983 in Journal of Inherited Metabolic Disease

Authors: M. Duran | J. B. C. de Klerk | J. van Pelt | S. K. Wadman | H. R. Scholte | R. P. Beekman | F. G. I. Jennekens

https://doi.org/10.1007/bf01810357 Actions

Comparison of the substrate 4‐Methylumbelliferyl‐α‐l‐iduronide with phenyl‐α‐l‐iduronide for the diagnosis of Hurler's disease in cultured cells

JOURNAL ARTICLE published September 1979 in Journal of Inherited Metabolic Disease

Authors: J. Butterworth | D. M. Broadhead

https://doi.org/10.1007/bf01801722 Actions

On being an editor, reviewer, and author—different sides of the same coin

JOURNAL ARTICLE published January 2019 in Journal of Inherited Metabolic Disease

Research funded by German pension fund (57191152B013)

Authors: Peter Burgard | Verena Peters

https://doi.org/10.1002/jimd.12017 Actions

Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening

JOURNAL ARTICLE published January 2019 in Journal of Inherited Metabolic Disease

Authors: Rebecca C. Ahrens‐Nicklas | Rebecca D. Ganetzky | Peggy W. Rush | Robert L. Conway | Can Ficicioglu

https://doi.org/10.1002/jimd.12035 Actions

Clinical and biochemical observations on a child with a deficiency of 3‐hydroxy‐3‐methylglutaryl coenzyme a lyase

JOURNAL ARTICLE published December 1980 in Journal of Inherited Metabolic Disease

Authors: A. Ketel | J. L. Ket | R. B. H. Schutgens | M. Duran | S. K. Wadman

https://doi.org/10.1007/bf02312535 Actions

Hepatic tyrosine aminotransferase in tyrosinaemia type II

JOURNAL ARTICLE published December 1982 in Journal of Inherited Metabolic Disease

Authors: K. Kida | M. Takahashi | Y. Fujisawa | H. Matsuda | H. Machino | Y. Miki

https://doi.org/10.1007/bf02179149 Actions

Reproductive counselling for adolescent females with phenylketonuria

JOURNAL ARTICLE published December 1980 in Journal of Inherited Metabolic Disease

Authors: Kathleen S. Tice | Elizabeth Wenz | Katherine Jew | R. Koch

https://doi.org/10.1007/bf02312542 Actions

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke‐like episodes syndrome and NADH‐CoQ reductase deficiency

JOURNAL ARTICLE published September 1986 in Journal of Inherited Metabolic Disease

Authors: M. Kobayashi | H. Morishita | N. Sugiyama | K. Yokochi | M. Nakano | Y. Wada | Y. Hotta | A. Terauchi | I. Nonaka

https://doi.org/10.1007/bf01799670 Actions

Disorders of mitochondrial β‐oxidation: Prenatal and early postnatal diagnosis and their relevance to Reye's syndrome and sudden infant death

JOURNAL ARTICLE published March 1989 in Journal of Inherited Metabolic Disease

Authors: R. J. Pollitt

https://doi.org/10.1007/bf01799297 Actions

Studies on human phenylalanine mono‐oxygenase. I. Restricted expression

JOURNAL ARTICLE published December 1981 in Journal of Inherited Metabolic Disease

Authors: M. A. Crawfurd | D. A. Gibbs | D. M. Sheppard

https://doi.org/10.1007/bf02263650 Actions

Glucose metabolism in fibroblasts from patients with erythrocyte hexokinase deficiency

JOURNAL ARTICLE published June 1986 in Journal of Inherited Metabolic Disease

Authors: M. Magnani | L. Chiarantini | V. Stocchi | M. Dachà | G. Fornaini

https://doi.org/10.1007/bf01799449 Actions

Phosphorylase kinase in leukocytes and erythrocytes of a patient with glycogen storage disease type IX

JOURNAL ARTICLE published June 1987 in Journal of Inherited Metabolic Disease

Authors: N. Bashan | R. Potashnik | T. Ehrlich | S. W. Moses

https://doi.org/10.1007/bf01800035 Actions
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